ClinVar for MedGen (Select 44030) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25715851.	NM_000052.7(ATP7A):c.2626G>C (p.Gly876Arg) GRCh37: ChrX:77271378 GRCh38: ChrX:78015881	ATP7A	G798R, G876R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715842.	NM_000052.7(ATP7A):c.2626+2T>A GRCh37: ChrX:77271380 GRCh38: ChrX:78015883	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715833.	NM_000052.7(ATP7A):c.2626+1G>A GRCh37: ChrX:77271379 GRCh38: ChrX:78015882	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715824.	NM_000052.7(ATP7A):c.2618T>G (p.Leu873Arg) GRCh37: ChrX:77271370 GRCh38: ChrX:78015873	ATP7A	L795R, L873R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715815.	NM_000052.7(ATP7A):c.2612_2613del (p.Glu871fs) GRCh37: ChrX:77271363-77271364 GRCh38: ChrX:78015866-78015867	ATP7A	E793fs, E871fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715806.	NM_000052.7(ATP7A):c.2609A>G (p.Asp870Gly) GRCh37: ChrX:77271361 GRCh38: ChrX:78015864	ATP7A	D792G, D870G	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715797.	NM_000052.7(ATP7A):c.2579G>T (p.Gly860Val) GRCh37: ChrX:77271331 GRCh38: ChrX:78015834	ATP7A	G782V, G860V	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715788.	NM_000052.7(ATP7A):c.2557G>C (p.Gly853Arg) GRCh37: ChrX:77271309 GRCh38: ChrX:78015812	ATP7A	G775R, G853R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715779.	NM_000052.7(ATP7A):c.2557G>A (p.Gly853Arg) GRCh37: ChrX:77271309 GRCh38: ChrX:78015812	ATP7A	G775R, G853R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257157610.	NM_000052.7(ATP7A):c.1585G>T (p.Glu529Ter) GRCh37: ChrX:77258611 GRCh38: ChrX:78003114	ATP7A	E529*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257157511.	NM_000052.7(ATP7A):c.2518G>T (p.Glu840Ter) GRCh37: ChrX:77271270 GRCh38: ChrX:78015773	ATP7A	E762, E840	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257157412.	NM_000052.7(ATP7A):c.2508del (p.Val837fs) GRCh37: ChrX:77271259 GRCh38: ChrX:78015762	ATP7A	V759fs, V837fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257157313.	NM_000052.7(ATP7A):c.2498+1G>A GRCh37: ChrX:77270251 GRCh38: ChrX:78014754	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257157214.	NM_000052.7(ATP7A):c.2473_2474del (p.Thr824_Leu825insTer) GRCh37: ChrX:77270223-77270224 GRCh38: ChrX:78014726-78014727	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257157115.	NM_000052.7(ATP7A):c.2446C>T (p.Gln816Ter) GRCh37: ChrX:77270198 GRCh38: ChrX:78014701	ATP7A	Q738, Q816	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257157016.	NM_000052.7(ATP7A):c.2440T>C (p.Ser814Pro) GRCh37: ChrX:77270192 GRCh38: ChrX:78014695	ATP7A	S736P, S814P	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257156917.	NM_000052.7(ATP7A):c.2407-2A>G GRCh37: ChrX:77270157 GRCh38: ChrX:78014660	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257156618.	NM_000052.7(ATP7A):c.2383C>A (p.Arg795=) GRCh37: ChrX:77268586 GRCh38: ChrX:78013089	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (May 17, 2017)	no assertion criteria provided
Select item 257156519.	NM_000052.7(ATP7A):c.2354dup (p.Met786fs) GRCh37: ChrX:77268552-77268553 GRCh38: ChrX:78013055-78013056	ATP7A	M786fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257156420.	NM_000052.7(ATP7A):c.2347dup (p.Thr783fs) GRCh37: ChrX:77268549-77268550 GRCh38: ChrX:78013052-78013053	ATP7A	T783fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257156321.	NM_000052.7(ATP7A):c.2337_2350del (p.Phe780fs) GRCh37: ChrX:77268538-77268551 GRCh38: ChrX:78013041-78013054	ATP7A	F780fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257156222.	NM_000052.7(ATP7A):c.2314_2317del (p.Arg772fs) GRCh37: ChrX:77268514-77268517 GRCh38: ChrX:78013017-78013020	ATP7A	R772fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257156123.	NM_000052.7(ATP7A):c.2284_2285del (p.Leu762fs) GRCh37: ChrX:77268486-77268487 GRCh38: ChrX:78012989-78012990	ATP7A	L762fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257156024.	NM_000052.7(ATP7A):c.2281T>C (p.Ser761Pro) GRCh37: ChrX:77268484 GRCh38: ChrX:78012987	ATP7A	S761P	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155925.	NM_000052.7(ATP7A):c.2206dup (p.Tyr736fs) GRCh37: ChrX:77268407-77268408 GRCh38: ChrX:78012910-78012911	ATP7A	Y736fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155826.	NM_000052.7(ATP7A):c.2173-1G>C GRCh37: ChrX:77268375 GRCh38: ChrX:78012878	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155727.	NM_000052.7(ATP7A):c.2172+6T>G GRCh37: ChrX:77267177 GRCh38: ChrX:78011680	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155628.	NM_000052.7(ATP7A):c.2172+5_2172+19del GRCh37: ChrX:77267172-77267186 GRCh38: ChrX:78011675-78011689	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155529.	NM_000052.7(ATP7A):c.1234del (p.Ala413fs) GRCh37: ChrX:77245350 GRCh38: ChrX:77989854	ATP7A	A413fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155430.	NM_000052.7(ATP7A):c.2172+1G>A GRCh37: ChrX:77267172 GRCh38: ChrX:78011675	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155331.	NM_000052.7(ATP7A):c.2171A>C (p.Gln724Pro) GRCh37: ChrX:77267170 GRCh38: ChrX:78011673	ATP7A	Q724P	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155232.	NM_000052.7(ATP7A):c.2170C>T (p.Gln724Ter) GRCh37: ChrX:77267169 GRCh38: ChrX:78011672	ATP7A	Q724*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155133.	NM_000052.7(ATP7A):c.2159del (p.Cys720fs) GRCh37: ChrX:77267158 GRCh38: ChrX:78011661	ATP7A	C720fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257155034.	NM_000052.7(ATP7A):c.2158T>C (p.Cys720Arg) GRCh37: ChrX:77267157 GRCh38: ChrX:78011660	ATP7A	C720R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154935.	NM_000052.7(ATP7A):c.2153T>A (p.Leu718Ter) GRCh37: ChrX:77267152 GRCh38: ChrX:78011655	ATP7A	L718*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154836.	NM_000052.7(ATP7A):c.2117T>G (p.Leu706Arg) GRCh37: ChrX:77267116 GRCh38: ChrX:78011619	ATP7A	L706R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154737.	NM_000052.7(ATP7A):c.2068G>T (p.Glu690Ter) GRCh37: ChrX:77267067 GRCh38: ChrX:78011570	ATP7A	E690*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154638.	NM_000052.7(ATP7A):c.2059A>G (p.Met687Val) GRCh37: ChrX:77267058 GRCh38: ChrX:78011561	ATP7A	M687V	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154539.	NM_000052.7(ATP7A):c.2057del (p.Asn686fs) GRCh37: ChrX:77267053 GRCh38: ChrX:78011556	ATP7A	N686fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154440.	NM_000052.7(ATP7A):c.2056_2059del (p.Gln685_Asn686insTer) GRCh37: ChrX:77267054-77267057 GRCh38: ChrX:78011557-78011560	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154341.	NM_000052.7(ATP7A):c.1971T>A (p.Ser657Arg) GRCh37: ChrX:77266970 GRCh38: ChrX:78011473	ATP7A	S657R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154242.	NM_000052.7(ATP7A):c.1958C>T (p.Ser653Phe) GRCh37: ChrX:77266957 GRCh38: ChrX:78011460	ATP7A	S653F	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154143.	NM_000052.7(ATP7A):c.1958C>A (p.Ser653Tyr) GRCh37: ChrX:77266957 GRCh38: ChrX:78011460	ATP7A	S653Y	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257154044.	NM_000052.7(ATP7A):c.1949G>A (p.Trp650Ter) GRCh37: ChrX:77266948 GRCh38: ChrX:78011451	ATP7A	W650*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153945.	NM_000052.7(ATP7A):c.1947-1G>T GRCh37: ChrX:77266945 GRCh38: ChrX:78011448	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153846.	NM_000052.7(ATP7A):c.1946+6T>G GRCh37: ChrX:77266755 GRCh38: ChrX:78011258	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153747.	NM_000052.7(ATP7A):c.1946+5G>C GRCh37: ChrX:77266754 GRCh38: ChrX:78011257	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153648.	NM_000052.7(ATP7A):c.1189_1192del (p.Gly397fs) GRCh37: ChrX:77245306-77245309 GRCh38: ChrX:77989810-77989813	ATP7A	G397fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153549.	NM_000052.7(ATP7A):c.1946+4A>G GRCh37: ChrX:77266753 GRCh38: ChrX:78011256	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153450.	NM_000052.7(ATP7A):c.1946+2T>C GRCh37: ChrX:77266751 GRCh38: ChrX:78011254	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153351.	NM_000052.7(ATP7A):c.1946+1G>A GRCh37: ChrX:77266750 GRCh38: ChrX:78011253	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257153252.	NM_000052.7(ATP7A):c.1936G>T (p.Glu646Ter) GRCh37: ChrX:77266739 GRCh38: ChrX:78011242	ATP7A	E646*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257152853.	NM_000052.7(ATP7A):c.1910C>G (p.Ser637Ter) GRCh37: ChrX:77266713 GRCh38: ChrX:78011216	ATP7A	S637*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257152754.	NM_000052.7(ATP7A):c.1139_1140del (p.Val380fs) GRCh37: ChrX:77245255-77245256 GRCh38: ChrX:77989759-77989760	ATP7A	V380fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257152455.	NM_000052.7(ATP7A):c.1903G>C (p.Asp635His) GRCh37: ChrX:77266706 GRCh38: ChrX:78011209	ATP7A	D635H	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257152156.	NM_000052.7(ATP7A):c.1898A>G (p.Lys633Arg) GRCh37: ChrX:77266701 GRCh38: ChrX:78011204	ATP7A	K633R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257151257.	NM_000052.7(ATP7A):c.1884dup (p.Ala629fs) GRCh37: ChrX:77266685-77266686 GRCh38: ChrX:78011188-78011189	ATP7A	A629fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150758.	NM_000052.7(ATP7A):c.1883A>T (p.Glu628Val) GRCh37: ChrX:77266686 GRCh38: ChrX:78011189	ATP7A	E628V	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150459.	NM_000052.7(ATP7A):c.1870-2A>T GRCh37: ChrX:77266671 GRCh38: ChrX:78011174	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150360.	NM_000052.7(ATP7A):c.890del (p.Ser297fs) GRCh37: ChrX:77245008 GRCh38: ChrX:77989512	ATP7A	S297fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150261.	NM_000052.7(ATP7A):c.721C>T (p.Gln241Ter) GRCh37: ChrX:77244839 GRCh38: ChrX:77989343	ATP7A	Q241*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150162.	NM_000052.7(ATP7A):c.693del (p.Met232fs) GRCh37: ChrX:77244811 GRCh38: ChrX:77989315	ATP7A	M232fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150063.	NM_000052.7(ATP7A):c.659_666del (p.Ile220fs) GRCh37: ChrX:77244775-77244782 GRCh38: ChrX:77989279-77989286	ATP7A	I220fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149964.	NM_000052.7(ATP7A):c.659_663del (p.Ile220fs) GRCh37: ChrX:77244776-77244780 GRCh38: ChrX:77989280-77989284	ATP7A	I220fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149865.	NM_000052.7(ATP7A):c.589C>T (p.Gln197Ter) GRCh37: ChrX:77244206 GRCh38: ChrX:77988710	ATP7A	Q197*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149766.	NM_000052.7(ATP7A):c.532G>T (p.Glu178Ter) GRCh37: ChrX:77244149 GRCh38: ChrX:77988653	ATP7A	E178*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149667.	NM_000052.7(ATP7A):c.526_529dup (p.Val177fs) GRCh37: ChrX:77244141-77244142 GRCh38: ChrX:77988645-77988646	ATP7A	V177fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149568.	NM_000052.7(ATP7A):c.521del (p.Lys174fs) GRCh37: ChrX:77244137 GRCh38: ChrX:77988641	ATP7A	K174fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149469.	NM_000052.7(ATP7A):c.463A>T (p.Lys155Ter) GRCh37: ChrX:77244080 GRCh38: ChrX:77988584	ATP7A	K155*	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149370.	NM_000052.7(ATP7A):c.1856dup (p.His620fs) GRCh37: ChrX:77264746-77264747 GRCh38: ChrX:78009249-78009250	ATP7A	H620fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149271.	NM_000052.7(ATP7A):c.4238C>G (p.Pro1413Arg) GRCh37: ChrX:77301802 GRCh38: ChrX:78046305	ATP7A	P1335R, P1413R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149172.	NM_000052.7(ATP7A):c.4226+6T>C GRCh37: ChrX:77301075 GRCh38: ChrX:78045578	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257149073.	NM_000052.7(ATP7A):c.4226+2T>C GRCh37: ChrX:77301071 GRCh38: ChrX:78045574	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148974.	NM_000052.7(ATP7A):c.4226+1G>A GRCh37: ChrX:77301070 GRCh38: ChrX:78045573	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148875.	NM_000052.7(ATP7A):c.4210_4226+19del GRCh37: ChrX:77301051-77301086 GRCh38: ChrX:78045554-78045589	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148776.	NM_000052.7(ATP7A):c.4198_4199del (p.Val1400fs) GRCh37: ChrX:77301040-77301041 GRCh38: ChrX:78045543-78045544	ATP7A	V1322fs, V1400fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148677.	NM_000052.7(ATP7A):c.4178T>C (p.Met1393Thr) GRCh37: ChrX:77301021 GRCh38: ChrX:78045524	ATP7A	M1315T, M1393T	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148578.	NM_000052.7(ATP7A):c.4177A>G (p.Met1393Val) GRCh37: ChrX:77301020 GRCh38: ChrX:78045523	ATP7A	M1315V, M1393V	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148479.	NM_000052.7(ATP7A):c.1818del (p.Lys607fs) GRCh37: ChrX:77264708 GRCh38: ChrX:78009211	ATP7A	K607fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148380.	NM_000052.7(ATP7A):c.1135del (p.Thr379fs) GRCh37: ChrX:77245251 GRCh38: ChrX:77989755	ATP7A	T379fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148281.	NM_000052.7(ATP7A):c.4167del (p.Ser1390fs) GRCh37: ChrX:77301010 GRCh38: ChrX:78045513	ATP7A	S1312fs, S1390fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148182.	NM_000052.7(ATP7A):c.4123+5G>A GRCh37: ChrX:77298937 GRCh38: ChrX:78043439	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257148083.	NM_000052.7(ATP7A):c.4118C>T (p.Ala1373Val) GRCh37: ChrX:77298927 GRCh38: ChrX:78043429	ATP7A	A1295V, A1373V	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147984.	NM_000052.7(ATP7A):c.4117G>C (p.Ala1373Pro) GRCh37: ChrX:77298926 GRCh38: ChrX:78043428	ATP7A	A1295P, A1373P	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147885.	NM_000052.7(ATP7A):c.4105G>A (p.Gly1369Arg) GRCh37: ChrX:77298914 GRCh38: ChrX:78043416	ATP7A	G1291R, G1369R	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147786.	NM_000052.7(ATP7A):c.4085C>A (p.Ala1362Asp) GRCh37: ChrX:77298894 GRCh38: ChrX:78043396	ATP7A	A1284D, A1362D	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147687.	NM_000052.7(ATP7A):c.4057_4058dup (p.Ile1355fs) GRCh37: ChrX:77298865-77298866 GRCh38: ChrX:78043367-78043368	ATP7A	I1277fs, I1355fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147588.	NM_000052.7(ATP7A):c.4032_4033delinsAT (p.Ser1344_Ile1345delinsArgPhe) GRCh37: ChrX:77298841-77298842 GRCh38: ChrX:78043343-78043344	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147489.	NM_000052.7(ATP7A):c.4030_4031insTGCCA (p.Ser1344fs) GRCh37: ChrX:77298838-77298839 GRCh38: ChrX:78043340-78043341	ATP7A	S1266fs, S1344fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147390.	NM_000052.7(ATP7A):c.4006-2A>G GRCh37: ChrX:77298813 GRCh38: ChrX:78043315	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147291.	NM_000052.7(ATP7A):c.4005+5G>A GRCh37: ChrX:77298291 GRCh38: ChrX:78042793	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147192.	NM_000052.7(ATP7A):c.4005+1del GRCh37: ChrX:77298285 GRCh38: ChrX:78042787	ATP7A		Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257147093.	NM_000052.7(ATP7A):c.1780dup (p.Tyr594fs) GRCh37: ChrX:77264670-77264671 GRCh38: ChrX:78009173-78009174	ATP7A	Y594fs	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257146994.	NM_000052.7(ATP7A):c.3974C>T (p.Ala1325Val) GRCh37: ChrX:77298255 GRCh38: ChrX:78042757	ATP7A	A1247V, A1325V	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257146895.	NM_000052.7(ATP7A):c.3923C>A (p.Ala1308Asp) GRCh37: ChrX:77298204 GRCh38: ChrX:78042706	ATP7A	A1230D, A1308D	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257146796.	NM_000052.7(ATP7A):c.3914A>G (p.Asp1305Gly) GRCh37: ChrX:77298195 GRCh38: ChrX:78042697	ATP7A	D1227G, D1305G	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257146697.	NM_000052.7(ATP7A):c.3914A>C (p.Asp1305Ala) GRCh37: ChrX:77298195 GRCh38: ChrX:78042697	ATP7A	D1227A, D1305A	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257146598.	NM_000052.7(ATP7A):c.3912T>A (p.Asn1304Lys) GRCh37: ChrX:77298193 GRCh38: ChrX:78042695	ATP7A	N1226K, N1304K	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257146499.	NM_000052.7(ATP7A):c.3905G>T (p.Gly1302Val) GRCh37: ChrX:77298186 GRCh38: ChrX:78042688	ATP7A	G1224V, G1302V	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 2571463100.	NM_000052.7(ATP7A):c.3905G>A (p.Gly1302Glu) GRCh37: ChrX:77298186 GRCh38: ChrX:78042688	ATP7A	G1224E, G1302E	Menkes kinky-hair syndrome	Uncertain significance (Jan 6, 2016)	no assertion criteria provided

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