ClinVar for Gene (Select 84873) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3062674	GRCh37/hg19 3q12.2-13.11(chr3:100369522-104621416)x1	ABI3BP, ADGRG7 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2622202	NM_032787.3(ADGRG7):c.957G>T (p.Lys319Asn)	ADGRG7 (K24N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607582	NM_032787.3(ADGRG7):c.1190G>A (p.Gly397Asp)	ADGRG7 (G397D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597449	NM_032787.3(ADGRG7):c.1022C>T (p.Ser341Leu)	ADGRG7 (S46L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595144	NM_032787.3(ADGRG7):c.2098G>T (p.Val700Phe)	ADGRG7 (V700F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2529003	NM_032787.3(ADGRG7):c.704T>C (p.Ile235Thr)	ADGRG7 (I235T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515093	NM_032787.3(ADGRG7):c.703A>G (p.Ile235Val)	ADGRG7 (I235V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507839	NM_032787.3(ADGRG7):c.1316A>G (p.Asn439Ser)	ADGRG7 (N144S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494637	NM_032787.3(ADGRG7):c.1642G>A (p.Ala548Thr)	ADGRG7 (A548T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465388	NM_032787.3(ADGRG7):c.1877G>T (p.Trp626Leu)	ADGRG7 (W331L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408496	NM_032787.3(ADGRG7):c.820C>T (p.Arg274Cys)	ADGRG7 (R274C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407318	NM_032787.3(ADGRG7):c.1348G>A (p.Ala450Thr)	ADGRG7 (A155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393565	NM_032787.3(ADGRG7):c.786C>A (p.Phe262Leu)	ADGRG7 (F262L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392843	NM_032787.3(ADGRG7):c.2339C>T (p.Pro780Leu)	ADGRG7 (P780L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2377126	NM_032787.3(ADGRG7):c.1324T>A (p.Cys442Ser)	ADGRG7 (C442S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350946	NM_032787.3(ADGRG7):c.64G>T (p.Gly22Cys)	ADGRG7 (G22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350159	NM_032787.3(ADGRG7):c.335C>T (p.Ala112Val)	ADGRG7 (A112V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345051	NM_032787.3(ADGRG7):c.548C>T (p.Thr183Met)	ADGRG7 (T183M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344526	NM_032787.3(ADGRG7):c.1624A>C (p.Thr542Pro)	ADGRG7 (T542P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339590	NM_032787.3(ADGRG7):c.1198A>G (p.Lys400Glu)	ADGRG7 (K400E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330248	NM_032787.3(ADGRG7):c.1913G>A (p.Ser638Asn)	ADGRG7 (S343N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325364	NM_032787.3(ADGRG7):c.1294A>C (p.Lys432Gln)	ADGRG7 (K432Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320511	NM_032787.3(ADGRG7):c.2122T>C (p.Phe708Leu)	ADGRG7 (F413L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315742	NM_032787.3(ADGRG7):c.2164G>C (p.Val722Leu)	ADGRG7 (V427L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312870	NM_032787.3(ADGRG7):c.316G>A (p.Gly106Ser)	ADGRG7 (G106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287578	NM_032787.3(ADGRG7):c.1084T>G (p.Ser362Ala)	ADGRG7 (S362A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286466	NM_032787.3(ADGRG7):c.874A>G (p.Ile292Val)	ADGRG7 (I292V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2285188	NM_032787.3(ADGRG7):c.1250A>G (p.Asn417Ser)	ADGRG7 (N122S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284911	NM_032787.3(ADGRG7):c.1573A>G (p.Met525Val)	ADGRG7 (M230V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280610	NM_032787.3(ADGRG7):c.2302A>G (p.Thr768Ala)	ADGRG7 (T768A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2277424	NM_032787.3(ADGRG7):c.1331T>C (p.Leu444Pro)	ADGRG7 (L149P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254651	NM_032787.3(ADGRG7):c.748G>C (p.Val250Leu)	ADGRG7 (V250L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2249731	NM_032787.3(ADGRG7):c.977A>G (p.Tyr326Cys)	ADGRG7 (Y326C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241745	NM_032787.3(ADGRG7):c.751G>C (p.Val251Leu)	ADGRG7 (V251L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221711	NM_032787.3(ADGRG7):c.1716A>T (p.Leu572Phe)	ADGRG7 (L277F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221150	NM_032787.3(ADGRG7):c.1810C>T (p.Arg604Trp)	ADGRG7 (R604W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208334	NM_032787.3(ADGRG7):c.1232G>A (p.Arg411His)	ADGRG7 (R116H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2053239	NM_032787.3(ADGRG7):c.1845dup (p.Pro616fs)	ADGRG7 (P321fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 789990	NM_032787.3(ADGRG7):c.2191G>A (p.Ala731Thr)	ADGRG7 (A731T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782808	NM_032787.3(ADGRG7):c.1794G>A (p.Gln598=)	ADGRG7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 738678	NM_032787.3(ADGRG7):c.839-7C>T	ADGRG7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730291	NM_032787.3(ADGRG7):c.2309A>G (p.His770Arg)	ADGRG7 (H770R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730290	NM_032787.3(ADGRG7):c.2303C>A (p.Thr768Asn)	ADGRG7 (T473N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716846	NM_032787.3(ADGRG7):c.2267G>A (p.Arg756His)	ADGRG7 (R461H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716103	NM_032787.3(ADGRG7):c.33G>C (p.Val11=)	ADGRG7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 156877	CM000665.1:g.100351696_100437892dup	ADGRG7, LOC129937149 +2 more	Duplication	Gestational diabetes mellitus uncontrolled +1 more	Gnot provided
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 144848	GRCh38/hg38 3q12.2(chr3:100641848-100725206)x4	ADGRG7, LOC129937149 +2 more	Copy number gain	See cases	GBenign/Likely benign
Select item 144847	GRCh38/hg38 3q12.2(chr3:100641848-100725206)x5	ADGRG7, LOC129937149 +2 more	Copy number gain	See cases	GBenign
Select item 144846	GRCh38/hg38 3q12.2(chr3:100641848-100725206)x3	ADGRG7, LOC129937149 +2 more	Copy number gain	See cases	GBenign/Likely benign
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 59