ClinVar for Gene (Select 79037) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311757	NM_001397246.1(PVRIG):c.581C>T (p.Pro194Leu)	PVRIG (P214L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311756	NM_001397246.1(PVRIG):c.562C>T (p.Arg188Cys)	PVRIG (R165C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311755	NM_001397246.1(PVRIG):c.10C>T (p.Arg4Trp)	PVRIG (R4W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311754	NM_001397246.1(PVRIG):c.764C>T (p.Ala255Val)	PVRIG (A232V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3149897	NM_001397246.1(PVRIG):c.748G>A (p.Gly250Ser)	PVRIG (G270S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149896	NM_001397246.1(PVRIG):c.5G>C (p.Gly2Ala)	PVRIG (G22A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149895	NM_001397246.1(PVRIG):c.539C>T (p.Pro180Leu)	PVRIG (P157L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149894	NM_001397246.1(PVRIG):c.182A>G (p.Asn61Ser)	PVRIG (N81S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149893	NM_001397246.1(PVRIG):c.44T>C (p.Leu15Ser)	PVRIG (L15S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2601044	NM_001397246.1(PVRIG):c.656G>A (p.Ser219Asn)	PVRIG (S219N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2520611	NM_001397246.1(PVRIG):c.122G>A (p.Arg41His)	PVRIG (R61H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511821	NM_001397246.1(PVRIG):c.524G>A (p.Arg175Gln)	PVRIG (R175Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482642	NM_001397246.1(PVRIG):c.570C>G (p.Ser190Arg)	PVRIG (S167R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465171	NM_024070.3(PVRIG):c.26C>T (p.Ala9Val)	LOC129998918, PVRIG (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465120	NM_001397246.1(PVRIG):c.392C>T (p.Pro131Leu)	PVRIG (P151L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455283	NM_001397246.1(PVRIG):c.233G>A (p.Arg78Gln)	PVRIG (R78Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2407009	NM_001397246.1(PVRIG):c.521G>A (p.Arg174His)	PVRIG (R194H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399621	NM_001397246.1(PVRIG):c.739C>T (p.Arg247Trp)	PVRIG (R247W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396962	NM_001397246.1(PVRIG):c.661C>T (p.Arg221Cys)	PVRIG (R221C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393062	NM_001397246.1(PVRIG):c.422C>T (p.Pro141Leu)	PVRIG (P141L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373977	NM_001397246.1(PVRIG):c.445C>T (p.Arg149Trp)	PVRIG (R149W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372015	NM_001397246.1(PVRIG):c.11G>A (p.Arg4Gln)	PVRIG (R24Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363110	NM_001397246.1(PVRIG):c.890G>A (p.Arg297Lys)	PVRIG (R274K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345330	NM_001397246.1(PVRIG):c.419C>T (p.Ala140Val)	PVRIG (A160V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343432	NM_001397246.1(PVRIG):c.107C>T (p.Ser36Leu)	PVRIG (S36L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296728	NM_001397246.1(PVRIG):c.245C>G (p.Pro82Arg)	PVRIG (P82R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277741	NM_001397246.1(PVRIG):c.499G>T (p.Val167Phe)	PVRIG (V187F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271461	NM_001397246.1(PVRIG):c.326A>C (p.Asn109Thr)	PVRIG (N129T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254198	NM_001397246.1(PVRIG):c.94G>A (p.Ala32Thr)	PVRIG (A32T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216349	NM_001397246.1(PVRIG):c.713C>T (p.Ala238Val)	LOC129998920, PVRIG (A238V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253693	GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3	MBLAC1, LAMTOR4 +7 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 154648	GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3	AP4M1, AZGP1 +67 more	Copy number gain	See cases	GUncertain significance
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 59