ClinVar for Gene (Select 390243) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287094	NM_001199206.4(IZUMO1R):c.425A>C (p.Asp142Ala)	IZUMO1R (D142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287093	NM_001199206.4(IZUMO1R):c.368G>T (p.Gly123Val)	IZUMO1R (G123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287092	NM_001199206.4(IZUMO1R):c.455A>G (p.Asn152Ser)	IZUMO1R (N152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112064	NM_001199206.4(IZUMO1R):c.613C>T (p.Arg205Trp)	IZUMO1R (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112063	NM_001199206.4(IZUMO1R):c.548C>A (p.Ala183Asp)	IZUMO1R (A183D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112062	NM_001199206.4(IZUMO1R):c.503A>G (p.Lys168Arg)	IZUMO1R (K168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112061	NM_001199206.4(IZUMO1R):c.493C>T (p.Arg165Cys)	IZUMO1R (R165C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112059	NM_001199206.4(IZUMO1R):c.280A>G (p.Ile94Val)	IZUMO1R (I94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615030	NM_001199206.4(IZUMO1R):c.445T>G (p.Cys149Gly)	IZUMO1R (C149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591727	NM_001199206.4(IZUMO1R):c.460C>T (p.Arg154Cys)	IZUMO1R (R154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549231	NM_001199206.4(IZUMO1R):c.110C>T (p.Pro37Leu)	IZUMO1R (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469552	NM_001199206.4(IZUMO1R):c.335G>A (p.Ser112Asn)	IZUMO1R (S112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405193	NM_001199206.4(IZUMO1R):c.47C>A (p.Pro16His)	IZUMO1R (P16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391675	NM_001199206.4(IZUMO1R):c.131A>G (p.Tyr44Cys)	IZUMO1R (Y44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347206	NM_001199206.4(IZUMO1R):c.578C>T (p.Ser193Phe)	IZUMO1R (S193F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308098	NM_001199206.4(IZUMO1R):c.423A>C (p.Glu141Asp)	IZUMO1R (E141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208432	NM_001199206.4(IZUMO1R):c.670C>T (p.Arg224Cys)	IZUMO1R (R224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204384	NM_001199206.4(IZUMO1R):c.602G>A (p.Arg201Gln)	IZUMO1R (R201Q)	Single nucleotide variant (missense variant)	not specified	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	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527663	GRCh37/hg19 11q21(chr11:93975926-94529037)	AMOTL1, ANKRD49 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
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	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980970	GRCh37/hg19 11q21(chr11:93676223-94342737)x3	ANKRD49, FUT4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815457	GRCh37/hg19 11q21(chr11:93297444-94041273)x3	PANX1, CEP295 +6 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 563862	GRCh37/hg19 11q21(chr11:93989761-94819546)x3	KDM4E, PIWIL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563856	GRCh37/hg19 11q21(chr11:93975926-94626160)x3	PIWIL4, GPR83 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563844	GRCh37/hg19 11q21(chr11:93934796-94301509)x3	MRE11, PIWIL4 +4 more	Copy number gain	not provided	GUncertain significance
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 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
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 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 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

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Links from Gene

Items: 39