PRRT3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148254	GRCh38/hg38 3p25.3(chr3:8812036-9953438)x3	ARPC4, ARPC4-TTLL3 +68 more	Copy number gain	See cases	GUncertain significance
Select item 149536	GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	ARPC4, ARPC4-TTLL3 +81 more	Copy number gain	See cases	GUncertain significance
Select item 57741	GRCh38/hg38 3p25.3(chr3:9393349-9956171)x1	ARPC4, ARPC4-TTLL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 144159	GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	LOC401052, MTMR14 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 148687	GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	ATP2B2, ATP2B2-IT1 +58 more	Copy number loss	See cases	GPathogenic
Select item 144845	GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	BRK1, CRELD1 +34 more	Copy number loss	See cases	GPathogenic
Select item 2285000	NM_207351.5(PRRT3):c.2914C>G (p.Arg972Gly)	PRRT3 (R972G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276944	NM_207351.5(PRRT3):c.2864A>G (p.Gln955Arg)	PRRT3 (Q955R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219750	NM_207351.5(PRRT3):c.2788C>T (p.Pro930Ser)	PRRT3 (P930S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267600	NM_207351.5(PRRT3):c.2780A>G (p.Asp927Gly)	PRRT3 (D927G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303417	NM_207351.5(PRRT3):c.2704A>G (p.Ser902Gly)	PRRT3 (S902G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336967	NM_207351.5(PRRT3):c.2701G>A (p.Gly901Ser)	PRRT3 (G901S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494410	NM_207351.5(PRRT3):c.2657A>G (p.Gln886Arg)	PRRT3 (Q886R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547684	NM_207351.5(PRRT3):c.2648C>G (p.Pro883Arg)	PRRT3 (P883R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219331	NM_207351.5(PRRT3):c.2605C>T (p.Arg869Cys)	PRRT3 (R869C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547145	NM_207351.5(PRRT3):c.2555G>C (p.Arg852Pro)	PRRT3 (R852P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560381	NM_207351.5(PRRT3):c.2536G>A (p.Gly846Ser)	PRRT3 (G846S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216842	NM_207351.5(PRRT3):c.2534G>A (p.Gly845Glu)	PRRT3 (G845E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219749	NM_207351.5(PRRT3):c.2521T>C (p.Ser841Pro)	PRRT3 (S841P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209119	NM_207351.5(PRRT3):c.2477T>C (p.Val826Ala)	PRRT3 (V826A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351074	NM_207351.5(PRRT3):c.2438G>T (p.Ser813Ile)	PRRT3 (S813I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352030	NM_207351.5(PRRT3):c.2345C>T (p.Pro782Leu)	PRRT3 (P782L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219747	NM_207351.5(PRRT3):c.2342G>C (p.Gly781Ala)	PRRT3 (G781A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219746	NM_207351.5(PRRT3):c.2334G>C (p.Leu778Phe)	PRRT3 (L778F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493826	NM_207351.5(PRRT3):c.2266C>T (p.Arg756Cys)	PRRT3 (R756C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402147	NM_207351.5(PRRT3):c.2231G>T (p.Gly744Val)	PRRT3 (G744V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333035	NM_207351.5(PRRT3):c.2228T>A (p.Val743Asp)	PRRT3 (V743D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219745	NM_207351.5(PRRT3):c.2156C>T (p.Ala719Val)	PRRT3 (A719V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554310	NM_207351.5(PRRT3):c.2101G>T (p.Ala701Ser)	PRRT3 (A701S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537650	NM_207351.5(PRRT3):c.2090C>A (p.Ala697Glu)	PRRT3 (A697E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219743	NM_207351.5(PRRT3):c.1889G>T (p.Gly630Val)	PRRT3 (G630V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321675	NM_207351.5(PRRT3):c.1868G>A (p.Arg623His)	PRRT3 (R623H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410293	NM_207351.5(PRRT3):c.1757T>C (p.Leu586Pro)	PRRT3, PRRT3-AS1 (L586P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3219741	NM_207351.5(PRRT3):c.1534G>T (p.Val512Leu)	PRRT3, PRRT3-AS1 (V512L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547269	NM_207351.5(PRRT3):c.1502G>A (p.Arg501Gln)	PRRT3, PRRT3-AS1 (R501Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319983	NM_207351.5(PRRT3):c.1427A>G (p.Tyr476Cys)	PRRT3, PRRT3-AS1 (Y476C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350898	NM_207351.5(PRRT3):c.1404C>G (p.Ser468Arg)	PRRT3, PRRT3-AS1 (S468R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219740	NM_207351.5(PRRT3):c.1400T>G (p.Leu467Arg)	PRRT3, PRRT3-AS1 (L467R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342109	NM_207351.5(PRRT3):c.1382G>T (p.Gly461Val)	PRRT3, PRRT3-AS1 (G461V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219739	NM_207351.5(PRRT3):c.1380G>C (p.Trp460Cys)	PRRT3, PRRT3-AS1 (W460C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464089	NM_207351.5(PRRT3):c.1364C>T (p.Ala455Val)	PRRT3, PRRT3-AS1 (A455V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472257	NM_207351.5(PRRT3):c.1331C>A (p.Ala444Asp)	PRRT3, PRRT3-AS1 (A444D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344044	NM_207351.5(PRRT3):c.1301C>T (p.Pro434Leu)	PRRT3, PRRT3-AS1 (P434L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267350	NM_207351.5(PRRT3):c.1249C>T (p.Arg417Trp)	PRRT3, PRRT3-AS1 (R417W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488538	NM_207351.5(PRRT3):c.1219C>A (p.Pro407Thr)	PRRT3, PRRT3-AS1 (P407T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219738	NM_207351.5(PRRT3):c.1205G>C (p.Ser402Thr)	PRRT3, PRRT3-AS1 (S402T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234931	NM_207351.5(PRRT3):c.1190C>T (p.Pro397Leu)	PRRT3, PRRT3-AS1 (P397L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703486	NM_207351.5(PRRT3):c.1180G>A (p.Glu394Lys)	PRRT3, PRRT3-AS1 (E394K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3219736	NM_207351.5(PRRT3):c.1154T>A (p.Met385Lys)	PRRT3, PRRT3-AS1 (M385K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389351	NM_207351.5(PRRT3):c.1106C>T (p.Pro369Leu)	PRRT3, PRRT3-AS1 (P369L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258580	NM_207351.5(PRRT3):c.1072G>A (p.Val358Met)	PRRT3, PRRT3-AS1 (V358M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511382	NM_207351.5(PRRT3):c.1058G>A (p.Arg353Gln)	PRRT3, PRRT3-AS1 (R353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470837	NM_207351.5(PRRT3):c.991G>T (p.Ala331Ser)	PRRT3, PRRT3-AS1 (A331S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219753	NM_207351.5(PRRT3):c.955C>T (p.Pro319Ser)	PRRT3, PRRT3-AS1 (P319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393281	NM_207351.5(PRRT3):c.943G>A (p.Ala315Thr)	PRRT3, PRRT3-AS1 (A315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457576	NM_207351.5(PRRT3):c.937C>A (p.Pro313Thr)	PRRT3, PRRT3-AS1 (P313T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219752	NM_207351.5(PRRT3):c.905C>T (p.Ser302Phe)	PRRT3, PRRT3-AS1 (S302F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2566750	NM_207351.5(PRRT3):c.760T>C (p.Ser254Pro)	PRRT3, PRRT3-AS1 (S254P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219751	NM_207351.5(PRRT3):c.582C>A (p.Ser194Arg)	PRRT3, PRRT3-AS1 (S194R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285896	NM_207351.5(PRRT3):c.551G>A (p.Arg184Lys)	PRRT3, PRRT3-AS1 (R184K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523567	NM_207351.5(PRRT3):c.448C>T (p.Pro150Ser)	PRRT3, PRRT3-AS1 (P150S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545832	NM_207351.5(PRRT3):c.241G>A (p.Glu81Lys)	PRRT3, PRRT3-AS1 (E81K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410962	NM_207351.5(PRRT3):c.226C>T (p.Arg76Cys)	PRRT3, PRRT3-AS1 (R76C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219744	NM_207351.5(PRRT3):c.212G>A (p.Arg71Lys)	PRRT3, PRRT3-AS1 (R71K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219742	NM_207351.5(PRRT3):c.185C>T (p.Pro62Leu)	PRRT3, PRRT3-AS1 (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2538120	NM_207351.5(PRRT3):c.101T>C (p.Leu34Pro)	PRRT3, PRRT3-AS1 (L34P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219737	NM_207351.5(PRRT3):c.11G>C (p.Ser4Thr)	PRRT3, PRRT3-AS1 (S4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 2685906	GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	ARPC4, ARPC4-TTLL3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2427431	NC_000003.11:g.(?_9908818)_(10085568_?)del	CRELD1, CIDEC +6 more	Deletion	Candidiasis, familial, 9	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1807789	GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	BRK1, CIDEC +10 more	Copy number gain	not provided	GUncertain significance
Select item 1807638	GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	ARPC4, ARPC4-TTLL3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1526997	GRCh37/hg19 3p25.3(chr3:9754611-10295828)	BRPF1, CAMK1 +20 more	Copy number gain	not specified	GUncertain significance
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1412574	NC_000003.11:g.(?_9908818)_(10191649_?)dup	BRK1, CIDEC +9 more	Duplication	Candidiasis, familial, 9 +1 more	GUncertain significance
Select item 1373390	NC_000003.11:g.(?_7782024)_(11078652_?)dup	ARPC4, ARPC4-TTLL3 +38 more	Duplication	Atrioventricular septal defect, susceptibility to, 2	GUncertain significance

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