ClinVar for Gene (Select 2653) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 191

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342848	NM_004483.5(GCSH):c.442A>C (p.Thr148Pro)	GCSH (T148P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3281089	NM_004483.5(GCSH):c.301G>C (p.Gly101Arg)	GCSH (G101R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3281088	NM_004483.5(GCSH):c.495G>C (p.Glu165Asp)	GCSH (E165D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
Select item 3243510	NC_000016.9:g.(?_81116471)_(81991603_?)dup	CMIP, GAN +4 more	Duplication	Familial cold autoinflammatory syndrome 3	GUncertain significance
Select item 3099182	NM_004483.5(GCSH):c.97C>G (p.Leu33Val)	GCSH, LOC130059495 (L33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099181	NM_004483.5(GCSH):c.80C>T (p.Pro27Leu)	GCSH, LOC130059495 (P27L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063447	GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3055057	NM_004483.5(GCSH):c.51C>T (p.Arg17=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 3048997	NM_004483.5(GCSH):c.42C>T (p.Cys14=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 3035656	NM_004483.5(GCSH):c.-9C>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	GCSH-related disorder	GLikely benign
Select item 3032946	NM_004483.5(GCSH):c.141G>A (p.Leu47=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 3030410	NM_004483.5(GCSH):c.99G>A (p.Leu33=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related disorder	GLikely benign
Select item 2685579	GRCh37/hg19 16q23.2(chr16:81002550-81217672)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685578	GRCh37/hg19 16q23.2(chr16:80905025-81177989)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684821	GRCh37/hg19 16q23.2(chr16:80891387-81346417)x3	ATMIN, BCO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 2614812	NM_004483.5(GCSH):c.80C>A (p.Pro27Gln)	GCSH, LOC130059495 (P27Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548184	NM_004483.5(GCSH):c.25G>A (p.Val9Met)	GCSH, LOC130059495 (V9M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525872	NM_004483.5(GCSH):c.443C>T (p.Thr148Ile)	GCSH (T148I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506442	NM_004483.5(GCSH):c.344C>T (p.Pro115Leu)	GCSH (P115L)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506441	NM_004483.5(GCSH):c.293-60_*72dup	GCSH	Duplication (splice acceptor variant +1 more)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506440	NG_016427.1:g.(5246_10695)_(10776_13711)del	GCSH	Deletion	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506439	NM_004483.5(GCSH):c.170A>G (p.His57Arg)	GCSH (H57R)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2506436	NM_004483.5(GCSH):c.293-2_293-1insT	GCSH	Insertion (splice acceptor variant)	Multiple mitochondrial dysfunctions syndrome 7	GPathogenic
Select item 2332101	NM_004483.5(GCSH):c.82C>T (p.Pro28Ser)	GCSH, LOC130059495 (P28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317888	NM_004483.5(GCSH):c.103G>A (p.Val35Met)	GCSH, LOC130059495 (V35M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292198	NM_004483.5(GCSH):c.68C>T (p.Ala23Val)	GCSH, LOC130059495 (A23V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285652	NM_004483.5(GCSH):c.16G>A (p.Val6Met)	GCSH, LOC130059495 (V6M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263017	NM_004483.5(GCSH):c.37C>G (p.Leu13Val)	GCSH, LOC130059495 (L13V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246895	NM_004483.5(GCSH):c.115C>A (p.Arg39Ser)	GCSH, LOC130059495 (R39S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2142973	NM_004483.5(GCSH):c.318G>A (p.Val106=)	GCSH	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1809201	GRCh37/hg19 16q23.2(chr16:80896302-81152918)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1705369	NM_004483.5(GCSH):c.425G>T (p.Gly142Val)	GCSH (G142V)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1602149	NM_004483.5(GCSH):c.148+15C>T	GCSH, LOC130059495	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GBenign
Select item 1593641	NM_004483.5(GCSH):c.425-18G>A	GCSH	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1526531	GRCh37/hg19 16q23.2(chr16:80976347-81647826)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526530	GRCh37/hg19 16q23.2(chr16:80896301-81140605)	ATMIN, C16orf46 +4 more	Copy number loss	not specified	GUncertain significance
Select item 1526528	GRCh37/hg19 16q23.2(chr16:80228506-81280700)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526526	GRCh37/hg19 16q23.1-23.2(chr16:77960664-81429258)	ATMIN, BCO1 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1438257	NM_004483.5(GCSH):c.505A>C (p.Lys169Gln)	GCSH (K169Q)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1422184	NM_004483.5(GCSH):c.38T>C (p.Leu13Pro)	LOC130059495, GCSH (L13P)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1403947	NM_004483.5(GCSH):c.514G>A (p.Glu172Lys)	GCSH (E172K)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1367392	NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)	GCSH (E122K)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1340001	GRCh37/hg19 16q23.2(chr16:80896301-81149333)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1294762	NM_004483.5(GCSH):c.149-128C>T	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294758	NM_004483.5(GCSH):c.148+87C>T	GCSH, LOC130059495	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294756	NM_004483.5(GCSH):c.229-119C>T	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290759	NM_004483.5(GCSH):c.*88A>C	GCSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1290070	NM_004483.5(GCSH):c.293-90G>A	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278715	NM_004483.5(GCSH):c.-37C>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1278379	NM_004483.5(GCSH):c.148+146T>C	GCSH, LOC130059495	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275956	NM_004483.5(GCSH):c.148+148dup	GCSH, LOC130059495	Duplication (intron variant)	not provided	GBenign
Select item 1268034	NM_004483.5(GCSH):c.293-67G>A	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265061	NM_004483.5(GCSH):c.293-177C>G	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262927	NM_004483.5(GCSH):c.229-84G>A	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260992	NM_004483.5(GCSH):c.228+149G>T	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245916	NM_004483.5(GCSH):c.293-119_293-118del	GCSH	Deletion (intron variant)	not provided	GBenign
Select item 1245468	NM_004483.5(GCSH):c.228+54T>C	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243784	NM_004483.5(GCSH):c.292+61A>G	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234127	NM_004483.5(GCSH):c.424+162T>G	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229715	NM_004483.5(GCSH):c.292+23A>G	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228603	NM_004483.5(GCSH):c.293-118del	GCSH	Deletion (intron variant)	not provided	GBenign
Select item 1227659	NC_000016.10:g.81096553G>A	GCSH	Single nucleotide variant	not provided	GBenign
Select item 1220817	NM_004483.5(GCSH):c.228+193C>G	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180928	NM_004483.5(GCSH):c.292+105G>T	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177967	NM_004483.5(GCSH):c.*164C>G	GCSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1166773	NM_004483.5(GCSH):c.159C>T (p.Phe53=)	GCSH	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia +1 more	GBenign
Select item 1164317	NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)	GCSH, LOC130059495 (S21L)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GBenign
Select item 1158087	NM_004483.5(GCSH):c.102G>A (p.Gly34=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1155937	NM_004483.5(GCSH):c.292+7G>A	GCSH	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1145428	NM_004483.5(GCSH):c.132A>T (p.Gly44=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1140626	NM_004483.5(GCSH):c.246T>A (p.Val82=)	GCSH	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1105097	NM_004483.5(GCSH):c.425-8G>C	GCSH	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1104557	NM_004483.5(GCSH):c.375A>G (p.Glu125=)	GCSH	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1092815	NM_004483.5(GCSH):c.46C>T (p.Leu16=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1092567	NM_004483.5(GCSH):c.132A>C (p.Gly44=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1092349	NM_004483.5(GCSH):c.228+8A>C	GCSH	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 1060702	NM_004483.5(GCSH):c.231A>C (p.Glu77Asp)	GCSH (E77D)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1059617	NM_004483.5(GCSH):c.203C>T (p.Thr68Ile)	GCSH (T68I)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 1052276	NM_004483.5(GCSH):c.259C>A (p.Leu87Ile)	GCSH (L87I)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1045554	NM_004483.5(GCSH):c.73C>T (p.Pro25Ser)	GCSH, LOC130059495 (P25S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1044507	NM_004483.5(GCSH):c.1A>T (p.Met1Leu)	GCSH, LOC130059495 (M1L)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1036776	NM_004483.5(GCSH):c.113T>G (p.Val38Gly)	GCSH, LOC130059495 (V38G)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1026358	NM_004483.5(GCSH):c.254G>T (p.Cys85Phe)	GCSH (C85F)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1023159	NC_000016.9:g.(?_81121196)_(81129883_?)del	GCSH	Deletion	Non-ketotic hyperglycinemia	GPathogenic
Select item 1006028	NM_004483.5(GCSH):c.502A>G (p.Ile168Val)	GCSH (I168V)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1004518	NM_004483.5(GCSH):c.19C>T (p.Arg7Trp)	GCSH, LOC130059495 (R7W)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1000783	NM_004483.5(GCSH):c.338_342del (p.Tyr113fs)	GCSH (Y113fs)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 999907	NM_004483.5(GCSH):c.400G>A (p.Val134Ile)	GCSH (V134I)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 979478	GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1	ATMIN, BCO1 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 966009	NM_004483.5(GCSH):c.115C>T (p.Arg39Cys)	GCSH, LOC130059495 (R39C)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 964311	NM_004483.5(GCSH):c.4G>C (p.Ala2Pro)	LOC130059495, GCSH (A2P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 963248	NM_004483.5(GCSH):c.313A>G (p.Ser105Gly)	GCSH (S105G)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 962205	NM_004483.5(GCSH):c.151C>T (p.Arg51Cys)	GCSH (R51C)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance

<< First< Prev

Page of 2