VASH2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC126806027, LOC126806028 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 1338832	GRCh38/hg38 1q32.3(chr1:212337801-213362035)	ANGEL2, ATF3 +66 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 560151	NC_000001.11:g.212950566_213249878del	ANGEL2, LOC112577542 +12 more	Deletion	not provided	GUncertain significance
Select item 2320151	NM_001301056.2(VASH2):c.85C>A (p.Pro29Thr)	VASH2 (P29T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2549138	NM_001301056.2(VASH2):c.283A>G (p.Ile95Val)	VASH2 (I30V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2333726	NM_001301056.2(VASH2):c.326A>C (p.Asp109Ala)	VASH2 (D109A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594926	NM_001301056.2(VASH2):c.574C>T (p.His192Tyr)	VASH2 (H192Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259973	NM_001301056.2(VASH2):c.586C>G (p.Leu196Val)	VASH2 (L92V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558409	NM_001301056.2(VASH2):c.685A>G (p.Ile229Val)	VASH2 (I125V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2639887	NM_001301056.2(VASH2):c.717C>T (p.Tyr239=)	VASH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374933	NM_001301056.2(VASH2):c.743T>C (p.Ile248Thr)	VASH2 (I183T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243436	NM_001301056.2(VASH2):c.754G>A (p.Val252Ile)	VASH2 (V252I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542124	NM_001301056.2(VASH2):c.763G>A (p.Glu255Lys)	VASH2 (E211K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542125	NM_001301056.2(VASH2):c.765G>C (p.Glu255Asp)	VASH2 (E151D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558642	NM_001301056.2(VASH2):c.860C>A (p.Ala287Asp)	VASH2 (A287D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475165	NM_001301056.2(VASH2):c.925C>T (p.Arg309Trp)	VASH2 (R205W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262820	NM_001301056.2(VASH2):c.982C>T (p.Arg328Trp)	VASH2 (R328W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685810	GRCh37/hg19 1q32.3(chr1:213038737-213132870)x1	FLVCR1, VASH2	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1340358	GRCh37/hg19 1q32.3(chr1:212846338-213356017)x3	ANGEL2, BATF3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 832455	NC_000001.11:g.(?_212782372)_(212951818_?)del	VASH2, FLVCR1 +4 more	Deletion	not provided	GPathogenic
Select item 831718	NC_000001.11:g.(?_212858453)_(212997318_?)dup	ANGEL2, FLVCR1 +1 more	Duplication	not provided	GUncertain significance
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565221	GRCh37/hg19 1q32.3(chr1:213054159-213549122)x3	FLVCR1, ANGEL2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic
Select item 253993	GRCh37/hg19 1q32.3(chr1:213088559-213423221)x1	ANGEL2, RPS6KC1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253934	GRCh37/hg19 1q32.3(chr1:213123908-213423221)x1	VASH2, RPS6KC1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 253783	GRCh37/hg19 1q32.3(chr1:212859808-213336495)x3	FLVCR1, FLVCR1-DT +7 more	Copy number gain	See cases	GUncertain significance
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 226161	GRCh37/hg19 1q32.3(chr1:213092201-213176992)	VASH2, ANGEL2	Copy number loss	Abnormal esophagus morphology	GUncertain significance

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Items: 41