VASH1[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	ABCD4, ACOT1 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 146816	GRCh38/hg38 14q24.3(chr14:76319351-76844718)x3	ANGEL1, ESRRB +16 more	Copy number gain	See cases	GLikely benign
Select item 148346	GRCh38/hg38 14q24.3(chr14:76724499-76945497)x1	ANGEL1, LOC110121372 +12 more	Copy number loss	See cases	GUncertain significance
Select item 2205361	NM_014909.5(VASH1):c.40G>T (p.Gly14Cys)	VASH1 (G14C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358712	NM_014909.5(VASH1):c.71C>A (p.Ala24Asp)	VASH1 (A24D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537159	NM_014909.5(VASH1):c.250A>G (p.Ile84Val)	VASH1 (I84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603030	NM_014909.5(VASH1):c.316A>C (p.Ile106Leu)	VASH1 (I106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478661	NM_014909.5(VASH1):c.325G>A (p.Val109Met)	VASH1 (V109M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568590	NM_014909.5(VASH1):c.361C>T (p.Arg121Cys)	VASH1 (R121C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458383	NM_014909.5(VASH1):c.631T>C (p.Phe211Leu)	VASH1 (F211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723598	NM_014909.5(VASH1):c.720G>A (p.Val240=)	VASH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2603003	NM_014909.5(VASH1):c.898G>C (p.Asp300His)	VASH1 (D300H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310125	NM_014909.5(VASH1):c.914T>C (p.Ile305Thr)	VASH1 (I305T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326670	NM_014909.5(VASH1):c.929G>A (p.Gly310Asp)	VASH1 (G310D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313515	NM_014909.5(VASH1):c.985C>G (p.Gln329Glu)	VASH1 (Q329E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345914	NM_014909.5(VASH1):c.986A>G (p.Gln329Arg)	VASH1 (Q329R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063325	GRCh37/hg19 14q24.3(chr14:76740491-77334658)x3	ANGEL1, ESRRB +2 more	Copy number gain	not specified	GUncertain significance
Select item 2684736	GRCh37/hg19 14q24.3(chr14:77067628-77320585)x3	ANGEL1, LRRC74A +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1527827	GRCh37/hg19 14q24.3(chr14:76740033-77334658)	ANGEL1, ESRRB +2 more	Copy number gain	not specified	GUncertain significance
Select item 688017	GRCh37/hg19 14q24.3(chr14:76942114-77248525)x3	ESRRB, VASH1	Copy number gain	not provided	GUncertain significance
Select item 564124	GRCh37/hg19 14q24.3(chr14:76740033-77334658)x3	LRRC74A, ESRRB +2 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	RBM25, LIN52 +59 more	Deletion	Intellectual disability, mild +3 more	GLikely pathogenic

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Items: 34