"GeneDx"[submitter] AND "GCSH"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	ADAMTS18, ADAT1 +360 more	Copy number loss	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	ARLNC1, ATMIN +162 more	Copy number loss	See cases	GPathogenic
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 1290759	NM_004483.5(GCSH):c.*88A>C	GCSH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 58252	GRCh38/hg38 16q23.2(chr16:81083563-81219270)x1	GCSH, LOC112486210 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1234127	NM_004483.5(GCSH):c.424+162T>G	GCSH	Single nucleotide variant (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 1290070	NM_004483.5(GCSH):c.293-90G>A	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 1228603	NM_004483.5(GCSH):c.293-118del	GCSH	Deletion (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 1180928	NM_004483.5(GCSH):c.292+105G>T	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 1229715	NM_004483.5(GCSH):c.292+23A>G	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 462903	NM_004483.5(GCSH):c.261C>G (p.Leu87=)	GCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 462902	NM_004483.5(GCSH):c.252T>C (p.Tyr84=)	GCSH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1262927	NM_004483.5(GCSH):c.229-84G>A	GCSH	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 1220817	NM_004483.5(GCSH):c.228+193C>G	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 1245468	NM_004483.5(GCSH):c.228+54T>C	GCSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265683	NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)	GCSH (Q76*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 462901	NM_004483.5(GCSH):c.218A>G (p.Asn73Ser)	GCSH (N73S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 1294762	NM_004483.5(GCSH):c.149-128C>T	GCSH	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 1278379	NM_004483.5(GCSH):c.148+146T>C	GCSH, LOC130059495	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 462910	NM_004483.5(GCSH):c.90C>G (p.Pro30=)	GCSH, LOC130059495	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 531790	NM_004483.5(GCSH):c.84G>A (p.Pro28=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	GCSH-related condition +2 more	GBenign/Likely benign
Select item 1164317	NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)	GCSH, LOC130059495 (S21L)	Single nucleotide variant (missense variant +1 more)	GCSH-related condition +2 more	GBenign
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 265685	NM_004483.5(GCSH):c.1A>G (p.Met1Val)	GCSH, LOC130059495 (M1V)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia +2 more	GPathogenic/Likely pathogenic
Select item 808113	NM_004483.5(GCSH):c.-4G>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	GCSH-related condition +1 more	GConflicting classifications of pathogenicity
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 1227659	NC_000016.10:g.81096553G>A	GCSH	Single nucleotide variant	not provided	GBenign
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic

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Items: 38