GRAMD1A[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	FXYD7, GARRE1 +193 more	Copy number loss	See cases	GPathogenic
Select item 2475188	NM_020895.5(GRAMD1A):c.25G>T (p.Gly9Cys)	GRAMD1A (G9C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341751	NM_020895.5(GRAMD1A):c.53C>T (p.Ser18Leu)	GRAMD1A (S105L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241145	NM_020895.5(GRAMD1A):c.88C>T (p.Arg30Trp)	GRAMD1A (R30W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217985	NM_020895.5(GRAMD1A):c.121G>A (p.Val41Met)	GRAMD1A (V128M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543838	NM_020895.5(GRAMD1A):c.183G>C (p.Gln61His)	GRAMD1A (Q61H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618259	NM_020895.5(GRAMD1A):c.208C>T (p.Arg70Cys)	GRAMD1A (R70C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205306	NM_020895.5(GRAMD1A):c.476C>T (p.Thr159Met)	GRAMD1A (T159M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398172	NM_020895.5(GRAMD1A):c.489C>G (p.Ile163Met)	GRAMD1A (I250M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555443	NM_020895.5(GRAMD1A):c.556C>T (p.Arg186Cys)	GRAMD1A (R273C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455916	NM_020895.5(GRAMD1A):c.619C>T (p.Arg207Cys)	GRAMD1A (R294C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620070	NM_020895.5(GRAMD1A):c.713G>A (p.Gly238Asp)	GRAMD1A (G231D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469861	NM_020895.5(GRAMD1A):c.722C>G (p.Thr241Ser)	GRAMD1A (T241S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2352665	NM_020895.5(GRAMD1A):c.770C>T (p.Ser257Leu)	GRAMD1A (S23L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649712	NM_020895.5(GRAMD1A):c.785G>A (p.Arg262His)	GRAMD1A (R255H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2590709	NM_020895.5(GRAMD1A):c.848C>T (p.Ala283Val)	GRAMD1A (A49V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473055	NM_020895.5(GRAMD1A):c.856G>A (p.Asp286Asn)	GRAMD1A (D286N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403956	NM_020895.5(GRAMD1A):c.938C>T (p.Pro313Leu)	GRAMD1A (P313L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607772	NM_020895.5(GRAMD1A):c.970C>G (p.Gln324Glu)	GRAMD1A (Q324E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484110	NM_020895.5(GRAMD1A):c.1004A>G (p.Asp335Gly)	GRAMD1A (D335G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329328	NM_020895.5(GRAMD1A):c.1074C>G (p.Asp358Glu)	GRAMD1A (D351E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366040	NM_020895.5(GRAMD1A):c.1166C>T (p.Ser389Leu)	GRAMD1A (S475L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611744	NM_020895.5(GRAMD1A):c.1274A>G (p.Tyr425Cys)	GRAMD1A (Y418C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364643	NM_020895.5(GRAMD1A):c.1360G>A (p.Gly454Ser)	GRAMD1A (G447S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461564	NM_020895.5(GRAMD1A):c.1456C>T (p.Arg486Trp)	GRAMD1A (R479W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542513	NM_020895.5(GRAMD1A):c.1492C>T (p.Arg498Cys)	GRAMD1A (R584C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248537	NM_020895.5(GRAMD1A):c.1526C>T (p.Ser509Leu)	GRAMD1A (S509L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249664	NM_020895.5(GRAMD1A):c.1546T>G (p.Trp516Gly)	GRAMD1A (W282G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559363	NM_020895.5(GRAMD1A):c.1552G>A (p.Gly518Ser)	GRAMD1A (G284S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464043	NM_020895.5(GRAMD1A):c.1660C>T (p.Arg554Trp)	GRAMD1A (R320W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463579	NM_020895.5(GRAMD1A):c.1685G>A (p.Arg562Gln)	GRAMD1A (R328Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601205	NM_020895.5(GRAMD1A):c.1732C>T (p.Arg578Trp)	GRAMD1A (R664W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246201	NM_020895.5(GRAMD1A):c.1948G>T (p.Ala650Ser)	GRAMD1A (A732S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537820	NM_020895.5(GRAMD1A):c.1970C>T (p.Pro657Leu)	GRAMD1A (P419L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233858	NM_020895.5(GRAMD1A):c.2026G>A (p.Val676Met)	GRAMD1A (V665M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276729	NM_020895.5(GRAMD1A):c.2083A>G (p.Met695Val)	GRAMD1A (M691V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214722	NM_020895.5(GRAMD1A):c.2152C>T (p.Arg718Trp)	GRAMD1A (R707W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 221398	GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3	CD22, DMKN +18 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 51