ClinVar for MedGen (Select 396196) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 379

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954015	NM_001001557.4(GDF6):c.855G>C (p.Gln285His)	GDF6 (Q285H)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 2952908	NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr)	GDF6 (D203Y)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2952497	NM_001001557.4(GDF6):c.558G>A (p.Val186=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2951652	NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg)	GDF6 (G206R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2949934	NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)	GDF6 (I402V)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GBenign
Select item 2949399	NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)	GDF6 (E96Q)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2948318	NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg)	GDF6 (P258R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2947167	NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln)	GDF6 (P305Q)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2946029	NM_001001557.4(GDF6):c.306C>T (p.Tyr102=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2945765	NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)	GDF6 (Q72R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GBenign
Select item 2944356	NM_001001557.4(GDF6):c.276G>A (p.Val92=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2944182	NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu)	GDF6 (P256L)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2943047	NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro)	GDF6 (A77P)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2942894	NM_001001557.4(GDF6):c.1248G>T (p.Pro416=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2942174	NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly)	GDF6 (E84G)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2941294	NM_001001557.4(GDF6):c.36C>T (p.Phe12=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2940612	NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)	GDF6 (P71L)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2940342	NM_001001557.4(GDF6):c.327G>A (p.Glu109=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2939790	NM_001001557.4(GDF6):c.19C>T (p.Leu7=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2938837	NM_001001557.4(GDF6):c.432G>C (p.Arg144=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2938588	NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys)	GDF6 (E36K)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2938088	NM_001001557.4(GDF6):c.727G>T (p.Gly243Trp)	GDF6 (G243W)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2936809	NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly)	GDF6 (R294G)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2936735	NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg)	GDF6 (Q273R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2935539	NM_001001557.4(GDF6):c.1008G>A (p.Thr336=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2934659	NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro)	GDF6 (A242P)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2934530	NM_001001557.4(GDF6):c.72G>A (p.Gln24=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2933215	NM_001001557.4(GDF6):c.942G>A (p.Pro314=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2932408	NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu)	GDF6 (S9L)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2931970	NM_001001557.4(GDF6):c.581C>A (p.Pro194His)	GDF6 (P194H)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2930893	NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)	GDF6 (D2G)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2930670	NM_001001557.4(GDF6):c.1179G>T (p.Ser393=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2929912	NM_001001557.4(GDF6):c.273C>A (p.Arg91=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2929811	NM_001001557.4(GDF6):c.960G>A (p.Pro320=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2929172	NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)	GDF6 (E244D)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2927707	NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)	GDF6 (P209S)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2927476	NM_001001557.4(GDF6):c.603C>T (p.Thr201=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2927418	NM_001001557.4(GDF6):c.141G>A (p.Lys47=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2924320	NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met)	GDF6 (T405M)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2923181	NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)	GDF6 (H382L)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2922584	NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)	GDF6 (R332Q)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2922439	NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp)	GDF6 (S317W)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2922290	NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser)	GDF6 (P257S)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2922148	NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)	GDF6 (P179T)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2921535	NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg)	GDF6 (P252R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2658700	NM_001001557.4(GDF6):c.612G>T (p.Pro204=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +4 more	GLikely benign
Select item 2423451	NC_000008.10:g.(?_96037237)_(97345794_?)dup	CFAP418, GDF6 +5 more	Duplication	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2413898	NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro)	GDF6 (A26P)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2197155	NM_001001557.4(GDF6):c.1038C>T (p.His346=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 2194073	NM_001001557.4(GDF6):c.598C>A (p.Arg200=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 2186500	NM_001001557.4(GDF6):c.168C>G (p.Arg56=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 2182975	NM_001001557.4(GDF6):c.774G>T (p.Pro258=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 2169118	NM_001001557.4(GDF6):c.407-10dup	GDF6	Duplication (intron variant)	Isolated microphthalmia 4 +3 more	GBenign
Select item 2168485	NM_001001557.4(GDF6):c.1353G>C (p.Ser451=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 2167387	NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr)	GDF6 (P316T)	Single nucleotide variant (missense variant)	Isolated microphthalmia 4 +3 more	GUncertain significance
Select item 2166587	NM_001001557.4(GDF6):c.549G>T (p.Pro183=)	GDF6	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 4 +3 more	GLikely benign
Select item 2166586	NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro)	GDF6 (L240P)	Single nucleotide variant (missense variant)	Isolated microphthalmia 4 +3 more	GUncertain significance
Select item 2163315	NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe)	GDF6 (L20F)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2160365	NM_001001557.4(GDF6):c.407-9A>G	GDF6	Single nucleotide variant (intron variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2158985	NM_001001557.4(GDF6):c.1146C>T (p.His382=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2157899	NM_001001557.4(GDF6):c.363C>T (p.Ser121=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2153379	NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr)	GDF6 (A245T)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2149929	NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)	GDF6 (R70Q)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2149382	NM_001001557.4(GDF6):c.468A>G (p.Ser156=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2144561	NM_001001557.4(GDF6):c.1212G>A (p.Gln404=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign
Select item 2139906	NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)	GDF6 (F338L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2136688	NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)	GDF6 (R46C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2134068	NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg)	GDF6 (L111R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2132687	NM_001001557.4(GDF6):c.725C>T (p.Ala242Val)	GDF6 (A242V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2129384	NM_001001557.4(GDF6):c.951G>T (p.Ser317=)	GDF6	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 2128961	NM_001001557.4(GDF6):c.366G>A (p.Lys122=)	GDF6	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 2128152	NM_001001557.4(GDF6):c.1011C>A (p.Ala337=)	GDF6	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 2127688	NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser)	GDF6 (F150S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2127640	NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter)	GDF6 (Q228*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2126391	NM_001001557.4(GDF6):c.861G>A (p.Lys287=)	GDF6	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 2125266	NM_001001557.4(GDF6):c.399G>A (p.Arg133=)	GDF6	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 2124161	NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)	GDF6 (R334Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2121952	NM_001001557.4(GDF6):c.406+19G>T	GDF6	Single nucleotide variant (intron variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 2118859	NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)	GDF6 (R62W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2115749	NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)	GDF6 (A307V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2111881	NM_001001557.4(GDF6):c.406+19G>A	GDF6	Single nucleotide variant (intron variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 2109667	NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)	GDF6 (S116R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2107073	NM_001001557.4(GDF6):c.252G>A (p.Glu84=)	GDF6	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 17 +3 more	GLikely benign
Select item 2105741	NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu)	GDF6 (S317L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2102731	NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)	GDF6 (R53Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 17 +3 more	GUncertain significance
Select item 2096402	NM_001001557.4(GDF6):c.915G>C (p.Pro305=)	GDF6	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GLikely benign
Select item 2088550	NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)	GDF6 (T40I)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 2082815	NM_001001557.4(GDF6):c.461T>C (p.Met154Thr)	GDF6 (M154T)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 2079940	NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)	GDF6 (R250P)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 2079882	NM_001001557.4(GDF6):c.765G>T (p.Pro255=)	GDF6	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GLikely benign
Select item 2078230	NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg)	GDF6 (G211R)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 2076753	NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala)	GDF6 (E365A)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GUncertain significance
Select item 2076642	NM_001001557.4(GDF6):c.335G>C (p.Gly112Ala)	GDF6 (G112A)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GLikely benign
Select item 2070707	NM_001001557.4(GDF6):c.1296C>T (p.Tyr432=)	GDF6	Single nucleotide variant (synonymous variant)	Microphthalmia, isolated, with coloboma 6 +3 more	GLikely benign
Select item 2065788	NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln)	GDF6 (P204Q)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2055465	NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg)	GDF6 (K41R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2049811	NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys)	GDF6 (E239K)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2046627	NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser)	GDF6 (T282S)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2046444	NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg)	GDF6 (G206R)	Single nucleotide variant (missense variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2039380	NM_001001557.4(GDF6):c.1347G>A (p.Val449=)	GDF6	Single nucleotide variant (synonymous variant)	Klippel-Feil syndrome 1, autosomal dominant +3 more	GLikely benign

<< First< Prev

Page of 4