ClinVar for Gene (Select 149699) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3103242	NM_176791.4(GTSF1L):c.73C>G (p.His25Asp)	GTSF1L (H25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103241	NM_176791.4(GTSF1L):c.440G>C (p.Gly147Ala)	GTSF1L (G122A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103240	NM_176791.4(GTSF1L):c.392C>T (p.Thr131Met)	GTSF1L (T106M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103239	NM_176791.4(GTSF1L):c.317T>C (p.Val106Ala)	GTSF1L (V106A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103238	NM_176791.4(GTSF1L):c.250A>G (p.Ser84Gly)	GTSF1L (S84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103237	NM_176791.4(GTSF1L):c.189T>G (p.Cys63Trp)	GTSF1L (C63W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486843	NM_176791.4(GTSF1L):c.152T>C (p.Val51Ala)	GTSF1L (V51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2263377	NM_176791.4(GTSF1L):c.235A>G (p.Lys79Glu)	GTSF1L (K79E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250037	NM_176791.4(GTSF1L):c.83C>T (p.Ser28Leu)	GTSF1L (S28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219153	NM_176791.4(GTSF1L):c.304G>A (p.Asp102Asn)	GTSF1L (D102N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic