VASH1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +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	LOC130056651, LOC130056652 +1423 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 3188213	NM_014909.5(VASH1):c.4C>T (p.Pro2Ser)	VASH1 (P2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205361	NM_014909.5(VASH1):c.40G>T (p.Gly14Cys)	VASH1 (G14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358712	NM_014909.5(VASH1):c.71C>A (p.Ala24Asp)	VASH1 (A24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188211	NM_014909.5(VASH1):c.110C>G (p.Thr37Ser)	VASH1 (T37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537159	NM_014909.5(VASH1):c.250A>G (p.Ile84Val)	VASH1 (I84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603030	NM_014909.5(VASH1):c.316A>C (p.Ile106Leu)	VASH1 (I106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478661	NM_014909.5(VASH1):c.325G>A (p.Val109Met)	VASH1 (V109M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568590	NM_014909.5(VASH1):c.361C>T (p.Arg121Cys)	VASH1 (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188212	NM_014909.5(VASH1):c.434A>G (p.Lys145Arg)	VASH1 (K145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188214	NM_014909.5(VASH1):c.517G>A (p.Val173Met)	VASH1 (V173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188215	NM_014909.5(VASH1):c.562C>T (p.Arg188Cys)	VASH1 (R188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331861	NM_014909.5(VASH1):c.583A>G (p.Thr195Ala)	VASH1 (T195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458383	NM_014909.5(VASH1):c.631T>C (p.Phe211Leu)	VASH1 (F211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188216	NM_014909.5(VASH1):c.670G>A (p.Glu224Lys)	VASH1 (E224K)	Single nucleotide variant (missense variant)	not specified	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 3331860	NM_014909.5(VASH1):c.844G>T (p.Val282Leu)	VASH1 (V282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603003	NM_014909.5(VASH1):c.898G>C (p.Asp300His)	VASH1 (D300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310125	NM_014909.5(VASH1):c.914T>C (p.Ile305Thr)	VASH1 (I305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326670	NM_014909.5(VASH1):c.929G>A (p.Gly310Asp)	VASH1 (G310D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188217	NM_014909.5(VASH1):c.962A>G (p.Asp321Gly)	VASH1 (D321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313515	NM_014909.5(VASH1):c.985C>G (p.Gln329Glu)	VASH1 (Q329E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345914	NM_014909.5(VASH1):c.986A>G (p.Gln329Arg)	VASH1 (Q329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188209	NM_014909.5(VASH1):c.1043A>C (p.Lys348Thr)	VASH1 (K348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188210	NM_014909.5(VASH1):c.1059A>C (p.Lys353Asn)	VASH1 (K353N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	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	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +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)	GTF2A1, GZMB +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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 46