ClinVar for Gene (Select 130059495) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1602149	NM_004483.5(GCSH):c.148+15C>T	GCSH, LOC130059495	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GBenign
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 1294758	NM_004483.5(GCSH):c.148+87C>T	GCSH, LOC130059495	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 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 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 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 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 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 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 955695	NM_004483.5(GCSH):c.31G>T (p.Ala11Ser)	GCSH, LOC130059495 (A11S)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 949660	NM_004483.5(GCSH):c.44C>T (p.Thr15Ile)	GCSH, LOC130059495 (T15I)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 936003	NM_004483.5(GCSH):c.28C>T (p.Arg10Trp)	GCSH, LOC130059495 (R10W)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 863851	NM_004483.5(GCSH):c.133C>G (p.Pro45Ala)	GCSH, LOC130059495 (P45A)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 862110	NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)	GCSH, LOC130059495 (R17C)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 854548	NM_004483.5(GCSH):c.20G>A (p.Arg7Gln)	GCSH, LOC130059495 (R7Q)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 851596	NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)	GCSH, LOC130059495 (A11T)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 808113	NM_004483.5(GCSH):c.-4G>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 771949	NM_004483.5(GCSH):c.129T>C (p.Thr43=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 758538	NM_004483.5(GCSH):c.132A>G (p.Gly44=)	LOC130059495, GCSH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 699808	NM_004483.5(GCSH):c.72G>T (p.Ala24=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 695849	NM_004483.5(GCSH):c.33C>T (p.Ala11=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 654342	NM_004483.5(GCSH):c.22A>G (p.Ser8Gly)	GCSH, LOC130059495 (S8G)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 647095	NM_004483.5(GCSH):c.89C>T (p.Pro30Leu)	GCSH, LOC130059495 (P30L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 565508	NM_004483.5(GCSH):c.17T>G (p.Val6Gly)	GCSH, LOC130059495 (V6G)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 531790	NM_004483.5(GCSH):c.84G>A (p.Pro28=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 531789	NM_004483.5(GCSH):c.75C>T (p.Pro25=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 462910	NM_004483.5(GCSH):c.90C>G (p.Pro30=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 462909	NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr)	GCSH, LOC130059495 (C26Y)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 462908	NM_004483.5(GCSH):c.53C>T (p.Ala18Val)	GCSH, LOC130059495 (A18V)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 265685	NM_004483.5(GCSH):c.1A>G (p.Met1Val)	GCSH, LOC130059495 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 60058	GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3	ATMIN, BCO1 +20 more	Copy number gain	See cases	GUncertain significance
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 58252	GRCh38/hg38 16q23.2(chr16:81083563-81219270)x1	GCSH, LOC112486210 +3 more	Copy number loss	See cases	GUncertain significance
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 57099	GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1	ARLNC1, ATMIN +59 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 77