ClinVar for Gene (Select 871) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 240

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3160500	NM_001235.5(SERPINH1):c.778C>G (p.Leu260Val)	SERPINH1 (L259V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160499	NM_001235.5(SERPINH1):c.716G>A (p.Arg239Gln)	SERPINH1 (R239Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160498	NM_001235.5(SERPINH1):c.443G>A (p.Arg148His)	SERPINH1 (R147H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160497	NM_001235.5(SERPINH1):c.221T>A (p.Val74Glu)	SERPINH1 (V73E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160496	NM_001235.5(SERPINH1):c.1049G>C (p.Ser350Thr)	SERPINH1 (S350T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033063	NM_001235.5(SERPINH1):c.738C>T (p.Tyr246=)	SERPINH1	Single nucleotide variant (synonymous variant)	SERPINH1-related condition	GLikely benign
Select item 3015592	NM_001235.5(SERPINH1):c.438C>T (p.Phe146=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012712	NM_001235.5(SERPINH1):c.622+12G>A	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994131	NM_001235.5(SERPINH1):c.732C>T (p.Asn244=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983375	NM_001235.5(SERPINH1):c.1110C>A (p.Ile370=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974668	NM_001235.5(SERPINH1):c.623-20G>A	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974049	NM_001235.5(SERPINH1):c.240C>T (p.Leu80=)	SERPINH1	Single nucleotide variant (synonymous variant)	SERPINH1-related condition +1 more	GLikely benign
Select item 2964087	NM_001235.5(SERPINH1):c.504C>T (p.Ser168=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920980	NM_001235.5(SERPINH1):c.954+15_954+18dup	SERPINH1	Duplication (intron variant)	not provided	GLikely benign
Select item 2908035	NM_001235.5(SERPINH1):c.477C>T (p.Ser159=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899181	NM_001235.5(SERPINH1):c.522C>T (p.Asn174=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881997	NM_001235.5(SERPINH1):c.108G>A (p.Leu36=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875925	NM_001235.5(SERPINH1):c.722-7C>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867184	NM_001235.5(SERPINH1):c.974del (p.Gly325fs)	SERPINH1 (G325fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2848675	NM_001235.5(SERPINH1):c.1185C>T (p.Thr395=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806267	NM_001235.5(SERPINH1):c.889A>G (p.Met297Val)	SERPINH1 (M296V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787903	NM_001235.5(SERPINH1):c.444C>T (p.Arg148=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755357	NM_001235.5(SERPINH1):c.184C>T (p.Gln62Ter)	SERPINH1 (Q61* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2718000	NM_001235.5(SERPINH1):c.1173A>G (p.Leu391=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695669	NM_001235.5(SERPINH1):c.543C>G (p.Thr181=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2682636	NM_001235.5(SERPINH1):c.774G>A (p.Met258Ile)	SERPINH1 (M257I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682533	NM_001235.5(SERPINH1):c.1243C>T (p.Arg415Ter)	SERPINH1 (R414* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2607475	NM_001235.5(SERPINH1):c.1214G>C (p.Arg405Pro)	SERPINH1 (R404P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585085	NM_001235.5(SERPINH1):c.1244G>A (p.Arg415Gln)	SERPINH1 (R415Q +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 2543863	NM_001235.5(SERPINH1):c.214G>A (p.Val72Met)	SERPINH1 (V71M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534538	NM_001235.5(SERPINH1):c.432T>G (p.Asp144Glu)	SERPINH1 (D143E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522116	NM_001235.5(SERPINH1):c.661A>T (p.Asn221Tyr)	SERPINH1 (N220Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478414	NM_001235.5(SERPINH1):c.1189A>C (p.Ser397Arg)	SERPINH1 (S396R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475586	NM_001235.5(SERPINH1):c.424T>C (p.Phe142Leu)	SERPINH1 (F142L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442771	NM_001235.5(SERPINH1):c.1118G>A (p.Arg373His)	SERPINH1 (R372H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435817	NM_001235.5(SERPINH1):c.119C>T (p.Ala40Val)	SERPINH1 (A39V +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 2435816	NM_001235.5(SERPINH1):c.1020G>A (p.Met340Ile)	SERPINH1 (M339I +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 10	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2414543	NM_001235.5(SERPINH1):c.54C>T (p.Ala18=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276979	NM_001235.5(SERPINH1):c.1034A>C (p.Asp345Ala)	SERPINH1 (D344A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226840	NM_001235.5(SERPINH1):c.683G>A (p.Arg228Gln)	SERPINH1 (R227Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199856	NM_001235.5(SERPINH1):c.357C>T (p.Ser119=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192041	NM_001235.5(SERPINH1):c.967G>A (p.Gly323Arg)	SERPINH1 (G323R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182749	NM_001235.5(SERPINH1):c.955-10del	SERPINH1	Deletion (intron variant)	not provided	GLikely benign
Select item 2168675	NM_001235.5(SERPINH1):c.955-7C>T	SERPINH1	Single nucleotide variant (intron variant)	SERPINH1-related condition +1 more	GLikely benign
Select item 2163258	NM_001235.5(SERPINH1):c.87T>A (p.Ala29=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2140677	NM_001235.5(SERPINH1):c.367G>T (p.Ala123Ser)	SERPINH1 (A122S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131812	NM_001235.5(SERPINH1):c.707T>C (p.Met236Thr)	SERPINH1 (M235T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126480	NM_001235.5(SERPINH1):c.692C>T (p.Thr231Ile)	SERPINH1 (T230I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105477	NM_001235.5(SERPINH1):c.169G>A (p.Ala57Thr)	SERPINH1 (A56T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104288	NM_001235.5(SERPINH1):c.534G>A (p.Ala178=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099804	NM_001235.5(SERPINH1):c.95C>T (p.Thr32Ile)	SERPINH1 (T31I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089819	NM_001235.5(SERPINH1):c.747G>C (p.Glu249Asp)	SERPINH1 (E249D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086974	NM_001235.5(SERPINH1):c.1249G>A (p.Glu417Lys)	SERPINH1 (E416K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2081443	NM_001235.5(SERPINH1):c.522C>A (p.Asn174Lys)	SERPINH1 (N174K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079149	NM_001235.5(SERPINH1):c.819T>C (p.His273=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066996	NM_001235.5(SERPINH1):c.227C>T (p.Ser76Leu)	SERPINH1 (S75L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2038135	NM_001235.5(SERPINH1):c.1111T>A (p.Tyr371Asn)	SERPINH1 (Y370N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020586	NM_001235.5(SERPINH1):c.30C>T (p.Phe10=)	SERPINH1 (L9F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2002355	NM_001235.5(SERPINH1):c.1207A>G (p.Ile403Val)	SERPINH1 (I403V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988372	NM_001235.5(SERPINH1):c.346C>T (p.Arg116Cys)	SERPINH1 (R115C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984290	NM_001235.5(SERPINH1):c.439G>A (p.Val147Met)	SERPINH1 (V147M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983483	NM_001235.5(SERPINH1):c.1176G>A (p.Val392=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971268	NM_001235.5(SERPINH1):c.623-3C>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1966915	NM_001235.5(SERPINH1):c.936G>A (p.Glu312=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965325	NM_001235.5(SERPINH1):c.969G>T (p.Gly323=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952426	NM_001235.5(SERPINH1):c.722-15C>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946641	NM_001235.5(SERPINH1):c.1227T>C (p.Pro409=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941086	NM_001235.5(SERPINH1):c.55G>A (p.Ala19Thr)	SERPINH1 (A19T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938780	NM_001235.5(SERPINH1):c.1018A>G (p.Met340Val)	SERPINH1 (M340V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928333	NM_001235.5(SERPINH1):c.133G>A (p.Glu45Lys)	SERPINH1 (E44K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927005	NM_001235.5(SERPINH1):c.499C>A (p.Arg167Ser)	SERPINH1 (R167S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914471	NM_001235.5(SERPINH1):c.465_479dup (p.Ser159_Lys160insAsnCysGluHisSer)	SERPINH1	Duplication (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1908819	NM_001235.5(SERPINH1):c.771G>C (p.Glu257Asp)	SERPINH1 (E256D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906362	NM_001235.5(SERPINH1):c.272C>T (p.Ser91Leu)	SERPINH1 (S91L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904631	NM_001235.5(SERPINH1):c.1015C>T (p.Arg339Cys)	SERPINH1 (R339C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903363	NM_001235.5(SERPINH1):c.308G>A (p.Arg103His)	SERPINH1 (R102H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898544	NM_001235.5(SERPINH1):c.104A>T (p.Lys35Met)	SERPINH1 (K34M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895876	NM_001235.5(SERPINH1):c.955-19C>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1717438	NM_001235.5(SERPINH1):c.227C>G (p.Ser76Trp)	SERPINH1 (S75W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713429	NM_001235.5(SERPINH1):c.779T>C (p.Leu260Pro)	SERPINH1 (L259P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1702060	NM_001235.5(SERPINH1):c.843T>C (p.Leu281=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702059	NM_001235.5(SERPINH1):c.370C>T (p.Arg124Cys)	SERPINH1 (R124C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1671286	NM_001235.5(SERPINH1):c.722-14C>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668809	NM_001235.5(SERPINH1):c.1212G>T (p.Gly404=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660896	NM_001235.5(SERPINH1):c.622+7C>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654483	NM_001235.5(SERPINH1):c.1149C>T (p.Tyr383=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640600	NM_001235.5(SERPINH1):c.722-12C>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637708	NM_001235.5(SERPINH1):c.804C>T (p.Ile268=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628439	NM_001235.5(SERPINH1):c.366G>C (p.Thr122=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1624678	NM_001235.5(SERPINH1):c.1191C>T (p.Ser397=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617405	NM_001235.5(SERPINH1):c.516C>T (p.Ser172=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612340	NM_001235.5(SERPINH1):c.393C>T (p.Gly131=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1605517	NM_001235.5(SERPINH1):c.167A>G (p.Gln56Arg)	SERPINH1 (Q56R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1594119	NM_001235.5(SERPINH1):c.102G>A (p.Glu34=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588227	NM_001235.5(SERPINH1):c.741C>T (p.Asp247=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571308	NM_001235.5(SERPINH1):c.622+8G>T	SERPINH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553073	NM_001235.5(SERPINH1):c.246G>A (p.Ser82=)	SERPINH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3