Related gene-specific medical variations for Gene (Select 2653) - ClinVar

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Items: 56

	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 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 2506440	NG_016427.1:g.(5246_10695)_(10776_13711)del	GCSH	Deletion	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 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 56415	NM_004483.5(GCSH):c.425-1G>T	GCSH	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 11973	GCSH, COMPLEX REARRANGEMENT	GCSH	Complex	Non-ketotic hyperglycinemia	GUncertain significance

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Items: 56