ClinVar for Gene (Select 221914) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282119	NM_152742.3(GPC2):c.1222C>G (p.Leu408Val)	GPC2, LOC129998909 (L408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282118	NM_152742.3(GPC2):c.1306G>A (p.Gly436Ser)	GPC2, LOC129998909 (G436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282115	NM_152742.3(GPC2):c.1660G>C (p.Gly554Arg)	GPC2 (G554R)	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 3101248	NM_152742.3(GPC2):c.844G>A (p.Gly282Ser)	GPC2 (G282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101247	NM_152742.3(GPC2):c.767G>A (p.Arg256His)	GPC2 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101246	NM_152742.3(GPC2):c.736G>T (p.Val246Leu)	GPC2 (V246L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101245	NM_152742.3(GPC2):c.653C>T (p.Thr218Ile)	GPC2 (T218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101244	NM_152742.3(GPC2):c.472G>A (p.Gly158Arg)	GPC2 (G158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101242	NM_152742.3(GPC2):c.1660G>A (p.Gly554Arg)	GPC2 (G554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101240	NM_152742.3(GPC2):c.1322C>T (p.Pro441Leu)	GPC2 (P441L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101239	NM_152742.3(GPC2):c.1268C>T (p.Ser423Leu)	GPC2, LOC129998909 (S423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101238	NM_152742.3(GPC2):c.1253T>G (p.Met418Arg)	GPC2, LOC129998909 (M418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101236	NM_152742.3(GPC2):c.1232C>T (p.Thr411Met)	GPC2, LOC129998909 (T411M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101235	NM_152742.3(GPC2):c.1219C>G (p.Arg407Gly)	GPC2, LOC129998909 (R407G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101234	NM_152742.3(GPC2):c.1211T>G (p.Phe404Cys)	GPC2, LOC129998909 (F404C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101233	NM_152742.3(GPC2):c.1087C>T (p.Arg363Trp)	GPC2, LOC129998910 (R363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101232	NM_152742.3(GPC2):c.1045C>G (p.Pro349Ala)	GPC2, LOC129998910 (P349A)	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 2623452	NM_152742.3(GPC2):c.1456C>G (p.Leu486Val)	GPC2 (L486V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623076	NM_152742.3(GPC2):c.1667C>T (p.Ala556Val)	GPC2 (A556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593818	NM_152742.3(GPC2):c.1736G>A (p.Arg579Gln)	GPC2 (R579Q)	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 2553531	NM_152742.3(GPC2):c.670G>A (p.Ala224Thr)	GPC2 (A224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551992	NM_152742.3(GPC2):c.1055T>G (p.Val352Gly)	GPC2, LOC129998910 (V352G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531532	NM_152742.3(GPC2):c.106C>T (p.Arg36Trp)	GPC2 (R36W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531024	NM_152742.3(GPC2):c.790C>T (p.Arg264Trp)	GPC2 (R264W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521096	NM_152742.3(GPC2):c.809T>C (p.Met270Thr)	GPC2 (M270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516760	NM_152742.3(GPC2):c.1699A>T (p.Ile567Phe)	GPC2 (I567F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477513	NM_152742.3(GPC2):c.674G>A (p.Arg225Gln)	GPC2 (R225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 2411272	NM_152742.3(GPC2):c.1649G>A (p.Arg550Gln)	GPC2 (R550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406797	NM_152742.3(GPC2):c.452T>G (p.Phe151Cys)	GPC2 (F151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405573	NM_152742.3(GPC2):c.1432A>C (p.Thr478Pro)	GPC2 (T478P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386392	NM_152742.3(GPC2):c.1550T>G (p.Val517Gly)	GPC2 (V517G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364455	NM_152742.3(GPC2):c.641G>A (p.Arg214His)	GPC2 (R214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358632	NM_152742.3(GPC2):c.193G>C (p.Glu65Gln)	GPC2 (E65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351791	NM_152742.3(GPC2):c.1280C>T (p.Ala427Val)	GPC2, LOC129998909 (A427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325213	NM_152742.3(GPC2):c.1672A>C (p.Ile558Leu)	GPC2 (I558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320080	NM_152742.3(GPC2):c.1076C>T (p.Ala359Val)	GPC2, LOC129998910 (A359V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293739	NM_152742.3(GPC2):c.386C>A (p.Ser129Tyr)	GPC2 (S129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280676	NM_152742.3(GPC2):c.580C>T (p.Arg194Cys)	GPC2 (R194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274954	NM_152742.3(GPC2):c.1339C>G (p.Pro447Ala)	GPC2 (P447A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264723	NM_152742.3(GPC2):c.439C>T (p.Arg147Trp)	GPC2 (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261721	NM_152742.3(GPC2):c.1125G>C (p.Glu375Asp)	GPC2, LOC129998910 (E375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260902	NM_152742.3(GPC2):c.674G>C (p.Arg225Pro)	GPC2 (R225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246336	NM_152742.3(GPC2):c.1328T>C (p.Val443Ala)	GPC2 (V443A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226731	NM_152742.3(GPC2):c.40C>G (p.Leu14Val)	GPC2 (L14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223171	NM_152742.3(GPC2):c.527C>T (p.Pro176Leu)	GPC2 (P176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220772	NM_152742.3(GPC2):c.1403G>A (p.Arg468Gln)	GPC2 (R468Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213860	NM_152742.3(GPC2):c.181G>A (p.Val61Ile)	GPC2 (V61I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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

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Links from Gene

Items: 76