ClinVar for Gene (Select 2886) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102234	NM_005310.5(GRB7):c.625G>A (p.Asp209Asn)	GRB7 (D209N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102233	NM_005310.5(GRB7):c.517G>T (p.Val173Leu)	GRB7 (V196L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102232	NM_005310.5(GRB7):c.-17T>C	GRB7 (L18P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3102231	NM_005310.5(GRB7):c.299G>A (p.Arg100His)	GRB7 (R100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102230	NM_005310.5(GRB7):c.1082C>T (p.Ser361Phe)	GRB7 (S361F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647725	NM_005310.5(GRB7):c.1536C>T (p.His512=)	GRB7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2647724	NM_005310.5(GRB7):c.1164C>G (p.Pro388=)	GRB7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647723	NM_005310.5(GRB7):c.307-5C>T	GRB7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2528103	NM_005310.5(GRB7):c.601G>C (p.Glu201Gln)	GRB7 (E224Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516551	NM_005310.5(GRB7):c.413T>C (p.Leu138Ser)	GRB7 (L138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488309	NM_005310.5(GRB7):c.794C>A (p.Thr265Asn)	GRB7 (T265N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454378	NM_005310.5(GRB7):c.409G>A (p.Ala137Thr)	GRB7 (A137T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 2398437	NM_005310.5(GRB7):c.97A>G (p.Thr33Ala)	GRB7 (T56A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394704	NM_005310.5(GRB7):c.1586G>A (p.Arg529Gln)	GRB7 (R552Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367635	NM_005310.5(GRB7):c.1583C>T (p.Thr528Met)	GRB7 (T528M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367141	NM_005310.5(GRB7):c.545G>A (p.Arg182Gln)	GRB7 (R182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360230	NM_005310.5(GRB7):c.1073G>C (p.Cys358Ser)	GRB7 (C381S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336068	NM_005310.5(GRB7):c.298C>T (p.Arg100Cys)	GRB7 (R100C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334294	NM_005310.5(GRB7):c.853G>A (p.Val285Met)	GRB7 (V285M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320942	NM_005310.5(GRB7):c.1385G>A (p.Arg462Gln)	GRB7 (G433R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317707	NM_005310.5(GRB7):c.68C>A (p.Thr23Asn)	GRB7 (T46N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308552	NM_005310.5(GRB7):c.1303C>T (p.Arg435Cys)	GRB7 (R458C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291640	NM_005310.5(GRB7):c.1049A>G (p.Gln350Arg)	GRB7 (Q350R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273359	NM_005310.5(GRB7):c.684C>A (p.Ser228Arg)	GRB7 (S228R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272101	NM_005310.5(GRB7):c.1559C>T (p.Pro520Leu)	GRB7 (P543L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267190	NM_005310.5(GRB7):c.1429G>A (p.Val477Met)	GRB7 (V500M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257303	NM_005310.5(GRB7):c.269C>T (p.Ala90Val)	GRB7 (A113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256914	NM_005310.5(GRB7):c.-45G>A	GRB7 (G9R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2250470	NM_005310.5(GRB7):c.362G>A (p.Gly121Asp)	GRB7 (G121D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232742	NM_005310.5(GRB7):c.2T>G (p.Met1Arg)	GRB7 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232366	NM_005310.5(GRB7):c.823G>A (p.Val275Met)	GRB7 (V275M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225952	NM_005310.5(GRB7):c.523G>A (p.Gly175Arg)	GRB7 (G175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212931	NM_005310.5(GRB7):c.976C>T (p.Arg326Cys)	GRB7 (R326C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208263	NM_005310.5(GRB7):c.373C>T (p.Arg125Cys)	GRB7 (R125C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790722	NM_005310.5(GRB7):c.1210-4A>G	GRB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786651	NM_005310.5(GRB7):c.1256C>A (p.Thr419Lys)	GRB7 (T419K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786650	NM_005310.5(GRB7):c.1085C>T (p.Pro362Leu)	GRB7 (P362L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784355	NM_005310.5(GRB7):c.483C>T (p.His161=)	GRB7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781281	NM_005310.5(GRB7):c.307-4G>A	GRB7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710463	NM_005310.5(GRB7):c.860C>T (p.Thr287Met)	GRB7 (T287M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 623431	NM_005310.5(GRB7):c.728G>A (p.Arg243Gln)	GRB7 (R243Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49