4544[geneid] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +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	AASDHPPT, ACAT1 +387 more	Copy number loss	See cases	GPathogenic
Select item 153370	GRCh38/hg38 11q14.3-21(chr11:92350603-93362560)x3	DEUP1, FAT3 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2369512	NM_005959.5(MTNR1B):c.32G>A (p.Cys11Tyr)	MTNR1B (C11Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3058891	NM_005959.5(MTNR1B):c.71G>A (p.Gly24Glu)	MTNR1B (G24E)	Single nucleotide variant (missense variant)	MTNR1B-related condition	GBenign
Select item 30127	NM_005959.5(MTNR1B):c.124G>C (p.Ala42Pro)	MTNR1B (A42P)	Single nucleotide variant (missense variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 30128	NM_005959.5(MTNR1B):c.179T>G (p.Leu60Arg)	MTNR1B (L60R)	Single nucleotide variant (missense variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 30129	NM_005959.5(MTNR1B):c.284C>T (p.Pro95Leu)	MTNR1B (P95L)	Single nucleotide variant (missense variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 3056447	NM_005959.5(MTNR1B):c.336C>T (p.His112=)	MTNR1B	Single nucleotide variant (synonymous variant)	MTNR1B-related condition	GLikely benign
Select item 725606	NM_005959.5(MTNR1B):c.378C>T (p.Gly126=)	MTNR1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252364	NM_005959.5(MTNR1B):c.422A>G (p.Tyr141Cys)	MTNR1B (Y141C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719914	NM_005959.5(MTNR1B):c.504C>T (p.Thr168=)	MTNR1B	Single nucleotide variant (synonymous variant)	MTNR1B-related condition +1 more	GLikely benign
Select item 2249672	NM_005959.5(MTNR1B):c.536G>T (p.Gly179Val)	MTNR1B (G179V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460183	NM_005959.5(MTNR1B):c.546G>T (p.Glu182Asp)	MTNR1B (E182D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051832	NM_005959.5(MTNR1B):c.593C>A (p.Thr198Asn)	MTNR1B (T198N)	Single nucleotide variant (missense variant)	MTNR1B-related condition	GLikely benign
Select item 2530967	NM_005959.5(MTNR1B):c.643G>T (p.Val215Phe)	MTNR1B (V215F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060517	NM_005959.5(MTNR1B):c.728A>G (p.Lys243Arg)	MTNR1B (K243R)	Single nucleotide variant (missense variant)	MTNR1B-related condition	GBenign
Select item 2546170	NM_005959.5(MTNR1B):c.767T>C (p.Val256Ala)	MTNR1B (V256A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043615	NM_005959.5(MTNR1B):c.816C>T (p.Leu272=)	MTNR1B	Single nucleotide variant (synonymous variant)	MTNR1B-related condition	GLikely benign
Select item 2322161	NM_005959.5(MTNR1B):c.832C>G (p.Pro278Ala)	MTNR1B (P278A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30130	NM_005959.5(MTNR1B):c.923A>C (p.Tyr308Ser)	MTNR1B (Y308S)	Single nucleotide variant (missense variant)	Diabetes mellitus type 2, susceptibility to	Grisk factor
Select item 2238448	NM_005959.5(MTNR1B):c.946C>T (p.Arg316Cys)	MTNR1B (R316C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053421	NM_005959.5(MTNR1B):c.974C>T (p.Ala325Val)	MTNR1B (A325V)	Single nucleotide variant (missense variant)	MTNR1B-related condition	GBenign
Select item 2262072	NM_005959.5(MTNR1B):c.1007C>T (p.Ala336Val)	MTNR1B (A336V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527660	GRCh37/hg19 11q14.3(chr11:89514122-92745981)	CHORDC1, FAT3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
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 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980968	GRCh37/hg19 11q14.3-21(chr11:92615227-93592229)x3	C11orf54, CEP295 +8 more	Copy number gain	not provided	GUncertain significance
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 563869	GRCh37/hg19 11q14.3(chr11:91228918-92784734)x1	MTNR1B, FAT3	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 more	Copy number loss	See cases	GPathogenic

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Items: 41