GRB10[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 3282611	NM_001350814.2(GRB10):c.1658C>A (p.Thr553Lys)	GRB10 (T591K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225109	NM_001350814.2(GRB10):c.1658C>T (p.Thr553Met)	GRB10 (T495M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060352	NM_001350814.2(GRB10):c.1647C>T (p.Asp549=)	GRB10	Single nucleotide variant (synonymous variant)	GRB10-related disorder	GBenign
Select item 2326563	NM_001350814.2(GRB10):c.1624T>A (p.Phe542Ile)	GRB10 (F496I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043075	NM_001350814.2(GRB10):c.1525C>G (p.Gln509Glu)	GRB10 (Q451E +4 more)	Single nucleotide variant (missense variant)	GRB10-related disorder	GLikely benign
Select item 2657500	NM_001350814.2(GRB10):c.1485C>T (p.His495=)	GRB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3043970	NM_001350814.2(GRB10):c.1457-10C>T	GRB10	Single nucleotide variant (intron variant)	GRB10-related disorder	GBenign
Select item 2331389	NM_001350814.2(GRB10):c.1403G>A (p.Arg468Gln)	GRB10 (R517Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052437	NM_001350814.2(GRB10):c.1389+10C>T	GRB10	Single nucleotide variant (intron variant)	GRB10-related disorder	GLikely benign
Select item 3282614	NM_001350814.2(GRB10):c.1381G>A (p.Ala461Thr)	GRB10 (A403T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769325	NM_001350814.2(GRB10):c.1347= (p.Ala449=)	GRB10	Variation (no sequence alteration)	not provided	GBenign
Select item 2239227	NM_001350814.2(GRB10):c.1346C>T (p.Ala449Val)	GRB10 (A449V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657501	NM_001350814.2(GRB10):c.1344G>A (p.Pro448=)	GRB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045053	NM_001350814.2(GRB10):c.1273-8C>T	GRB10	Single nucleotide variant (intron variant)	GRB10-related disorder	GLikely benign
Select item 3052388	NM_001350814.2(GRB10):c.1263G>A (p.Ser421=)	GRB10	Single nucleotide variant (synonymous variant)	GRB10-related disorder	GBenign
Select item 2316953	NM_001350814.2(GRB10):c.1159A>G (p.Arg387Gly)	GRB10 (R329G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047124	NM_001350814.2(GRB10):c.1086C>T (p.Leu362=)	GRB10	Single nucleotide variant (synonymous variant)	GRB10-related disorder	GLikely benign
Select item 2483439	NM_001350814.2(GRB10):c.1078C>T (p.His360Tyr)	GRB10 (H314Y +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3102208	NM_001350814.2(GRB10):c.1030A>G (p.Ile344Val)	GRB10 (I286V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544926	NM_001350814.2(GRB10):c.916T>A (p.Ser306Thr)	GRB10 (S306T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220784	NM_001350814.2(GRB10):c.904C>G (p.Leu302Val)	GRB10 (L244V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050540	NM_001350814.2(GRB10):c.894T>C (p.His298=)	GRB10	Single nucleotide variant (synonymous variant +1 more)	GRB10-related disorder	GLikely benign
Select item 2484256	NM_001350814.2(GRB10):c.799G>A (p.Val267Ile)	GRB10 (V316I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058605	NM_001350814.2(GRB10):c.747C>T (p.Tyr249=)	GRB10	Single nucleotide variant (synonymous variant)	GRB10-related disorder	GLikely benign
Select item 3282612	NM_001350814.2(GRB10):c.665G>C (p.Arg222Thr)	GRB10 (R222T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255285	NM_001350814.2(GRB10):c.577C>G (p.Leu193Val)	GRB10 (L135V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487804	NM_001350814.2(GRB10):c.571A>G (p.Arg191Gly)	GRB10 (R229G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 810094	NM_001350814.2(GRB10):c.482C>T (p.Pro161Leu)	GRB10 (P210L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310386	NM_001350814.2(GRB10):c.467C>T (p.Pro156Leu)	GRB10 (P194L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402130	NM_001350814.2(GRB10):c.464C>T (p.Thr155Met)	GRB10 (T155M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611629	NM_001350814.2(GRB10):c.457G>T (p.Val153Leu)	GRB10 (V202L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102216	NM_001350814.2(GRB10):c.454C>A (p.Pro152Thr)	GRB10 (P201T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657502	NM_001350814.2(GRB10):c.454C>G (p.Pro152Ala)	GRB10 (P152A +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2306243	NM_001350814.2(GRB10):c.451C>G (p.Pro151Ala)	GRB10 (P200A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102215	NM_001350814.2(GRB10):c.449G>C (p.Ser150Thr)	GRB10 (S199T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102214	NM_001350814.2(GRB10):c.443C>T (p.Pro148Leu)	GRB10 (P148L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102213	NM_001350814.2(GRB10):c.365G>A (p.Arg122His)	GRB10 (R160H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035400	NM_001350814.2(GRB10):c.354C>T (p.Leu118=)	GRB10	Single nucleotide variant (synonymous variant)	GRB10-related disorder	GLikely benign
Select item 3102212	NM_001350814.2(GRB10):c.332G>A (p.Arg111His)	GRB10 (R111H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044238	NM_001350814.2(GRB10):c.268C>A (p.Pro90Thr)	GRB10 (P128T +3 more)	Single nucleotide variant (missense variant)	GRB10-related disorder	GBenign
Select item 3102211	NM_001350814.2(GRB10):c.259C>T (p.Arg87Cys)	GRB10 (R125C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327780	NM_001350814.2(GRB10):c.250C>G (p.Gln84Glu)	GRB10 (Q84E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657503	NM_001350814.2(GRB10):c.248G>C (p.Gly83Ala)	GRB10 (G121A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3102209	NM_001350814.2(GRB10):c.211A>G (p.Ser71Gly)	GRB10 (S13G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033864	NM_001350814.2(GRB10):c.171C>T (p.Asn57=)	GRB10	Single nucleotide variant (synonymous variant +1 more)	GRB10-related disorder	GLikely benign
Select item 3234147	NM_001350814.2(GRB10):c.131A>G (p.Asn44Ser)	GRB10 (N44S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2216893	NM_001350814.2(GRB10):c.122G>A (p.Arg41Gln)	GRB10 (R41Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345156	NM_001350814.2(GRB10):c.109G>A (p.Ala37Thr)	GRB10 (A37T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 769716	NM_001350814.2(GRB10):c.107C>T (p.Pro36Leu)	GRB10 (P36L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2208390	NM_001350814.2(GRB10):c.91G>A (p.Ala31Thr)	GRB10 (A31T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282613	NM_001350814.2(GRB10):c.65A>G (p.Gln22Arg)	GRB10 (Q22R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3044427	NM_001350814.2(GRB10):c.52-6957C>T	GRB10	Single nucleotide variant (intron variant)	GRB10-related disorder	GLikely benign
Select item 2685240	GRCh37/hg19 7p12.1(chr7:50617859-52201563)x1	COBL, DDC +1 more	Copy number loss	not provided	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 689001	GRCh37/hg19 7p12.1(chr7:50837003-50877319)x3	GRB10	Copy number gain	not provided	GUncertain significance
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 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 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 66