ENDOD1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 2361928	NM_015036.3(ENDOD1):c.17G>C (p.Trp6Ser)	ENDOD1, LOC130006610 (W6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374077	NM_015036.3(ENDOD1):c.34C>T (p.Leu12Phe)	ENDOD1, LOC130006610 (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343259	NM_015036.3(ENDOD1):c.104A>T (p.Asp35Val)	ENDOD1, LOC130006610 (D35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088835	NM_015036.3(ENDOD1):c.133G>T (p.Ala45Ser)	ENDOD1, LOC130006610 (A45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275415	NM_015036.3(ENDOD1):c.136G>A (p.Gly46Arg)	ENDOD1, LOC130006610 (G46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251831	NM_015036.3(ENDOD1):c.230T>G (p.Val77Gly)	ENDOD1 (V77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377871	NM_015036.3(ENDOD1):c.238G>A (p.Ala80Thr)	ENDOD1 (A80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547300	NM_015036.3(ENDOD1):c.247G>T (p.Ala83Ser)	ENDOD1 (A83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312843	NM_015036.3(ENDOD1):c.253C>T (p.Arg85Cys)	ENDOD1 (R85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229255	NM_015036.3(ENDOD1):c.268G>T (p.Gly90Cys)	ENDOD1 (G90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318281	NM_015036.3(ENDOD1):c.378C>A (p.Ser126Arg)	ENDOD1 (S126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642302	NM_015036.3(ENDOD1):c.396A>G (p.Thr132=)	ENDOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364881	NM_015036.3(ENDOD1):c.517C>T (p.Arg173Trp)	ENDOD1 (R173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088836	NM_015036.3(ENDOD1):c.547G>A (p.Asp183Asn)	ENDOD1 (D183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642303	NM_015036.3(ENDOD1):c.606A>G (p.Thr202=)	ENDOD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2331456	NM_015036.3(ENDOD1):c.628A>G (p.Lys210Glu)	ENDOD1 (K210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485558	NM_015036.3(ENDOD1):c.634A>G (p.Lys212Glu)	ENDOD1 (K212E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275413	NM_015036.3(ENDOD1):c.688G>A (p.Gly230Arg)	ENDOD1 (G230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296120	NM_015036.3(ENDOD1):c.710T>A (p.Val237Asp)	ENDOD1 (V237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088838	NM_015036.3(ENDOD1):c.721C>T (p.Arg241Trp)	ENDOD1 (R241W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514990	NM_015036.3(ENDOD1):c.722G>A (p.Arg241Gln)	ENDOD1 (R241Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088839	NM_015036.3(ENDOD1):c.826A>C (p.Thr276Pro)	ENDOD1 (T276P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315451	NM_015036.3(ENDOD1):c.836T>C (p.Met279Thr)	ENDOD1 (M279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088840	NM_015036.3(ENDOD1):c.851A>C (p.Glu284Ala)	ENDOD1 (E284A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275414	NM_015036.3(ENDOD1):c.869A>G (p.Gln290Arg)	ENDOD1 (Q290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494572	NM_015036.3(ENDOD1):c.994A>G (p.Met332Val)	ENDOD1 (M332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205943	NM_015036.3(ENDOD1):c.1024C>T (p.Leu342Phe)	ENDOD1 (L342F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327768	NM_015036.3(ENDOD1):c.1040A>T (p.Tyr347Phe)	ENDOD1 (Y347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235003	NM_015036.3(ENDOD1):c.1055C>A (p.Ala352Glu)	ENDOD1 (A352E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374269	NM_015036.3(ENDOD1):c.1088G>A (p.Cys363Tyr)	ENDOD1 (C363Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474354	NM_015036.3(ENDOD1):c.1115T>C (p.Ile372Thr)	ENDOD1 (I372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088832	NM_015036.3(ENDOD1):c.1127T>G (p.Leu376Arg)	ENDOD1 (L376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088833	NM_015036.3(ENDOD1):c.1150A>G (p.Ile384Val)	ENDOD1 (I384V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3088834	NM_015036.3(ENDOD1):c.1213G>A (p.Val405Met)	ENDOD1 (V405M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3275412	NM_015036.3(ENDOD1):c.1241G>A (p.Arg414Gln)	ENDOD1 (R414Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375027	NM_015036.3(ENDOD1):c.1312G>A (p.Ala438Thr)	ENDOD1 (A438T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063185	GRCh37/hg19 11q21(chr11:94818214-94950301)x1	ENDOD1, SESN3	Copy number loss	not specified	GUncertain significance
Select item 2685419	GRCh37/hg19 11q21(chr11:94818215-94926624)x1	ENDOD1, SESN3	Copy number loss	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1708198	GRCh37/hg19 11q21(chr11:94693565-95725474)x3	CEP57, CWC15 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1341209	GRCh37/hg19 11q21(chr11:94681351-95176293)x1	CWC15, ENDOD1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 221480	GRCh37/hg19 11q21(chr11:94696615-95528715)x3	CEP57, CWC15 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 57