ClinVar for Gene (Select 220042) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3271200	NM_145018.4(DDIAS):c.2845C>T (p.Pro949Ser)	DDIAS (P949S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271199	NM_145018.4(DDIAS):c.1433C>A (p.Ala478Asp)	DDIAS (A478D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271197	NM_145018.4(DDIAS):c.1874T>C (p.Phe625Ser)	DDIAS (F625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271196	NM_145018.4(DDIAS):c.2818A>G (p.Lys940Glu)	DDIAS (K940E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080758	NM_145018.4(DDIAS):c.977A>C (p.His326Pro)	DDIAS (H326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080756	NM_145018.4(DDIAS):c.568T>A (p.Phe190Ile)	DDIAS (F190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080755	NM_145018.4(DDIAS):c.514A>G (p.Ile172Val)	DDIAS (I172V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080754	NM_145018.4(DDIAS):c.438C>A (p.Phe146Leu)	DDIAS (F146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080753	NM_145018.4(DDIAS):c.401A>G (p.Glu134Gly)	DDIAS (E134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080751	NM_145018.4(DDIAS):c.316A>G (p.Asn106Asp)	DDIAS (N106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080750	NM_145018.4(DDIAS):c.2792A>G (p.Lys931Arg)	DDIAS (K931R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080747	NM_145018.4(DDIAS):c.1970T>C (p.Ile657Thr)	DDIAS (I657T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080746	NM_145018.4(DDIAS):c.1552G>C (p.Glu518Gln)	DDIAS (E518Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080745	NM_145018.4(DDIAS):c.1468T>A (p.Cys490Ser)	DDIAS (C490S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080744	NM_145018.4(DDIAS):c.103G>A (p.Val35Ile)	DDIAS (V35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613067	NM_145018.4(DDIAS):c.1346A>C (p.Asn449Thr)	DDIAS (N449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604718	NM_145018.4(DDIAS):c.2210A>G (p.Gln737Arg)	DDIAS (Q737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596750	NM_145018.4(DDIAS):c.1981G>A (p.Val661Ile)	DDIAS (V661I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2544918	NM_145018.4(DDIAS):c.1165G>T (p.Ala389Ser)	DDIAS (A389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544071	NM_145018.4(DDIAS):c.1379G>A (p.Arg460Lys)	DDIAS (R460K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532091	NM_145018.4(DDIAS):c.2246C>T (p.Ser749Phe)	DDIAS (S749F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509603	NM_145018.4(DDIAS):c.2228G>A (p.Arg743Lys)	DDIAS (R743K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491186	NM_145018.4(DDIAS):c.624T>A (p.Asp208Glu)	DDIAS (D208E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488629	NM_145018.4(DDIAS):c.637G>C (p.Asp213His)	DDIAS (D213H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480012	NM_145018.4(DDIAS):c.1698G>C (p.Glu566Asp)	DDIAS (E566D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476046	NM_145018.4(DDIAS):c.329A>G (p.Gln110Arg)	DDIAS (Q110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474939	NM_145018.4(DDIAS):c.1999A>G (p.Ile667Val)	DDIAS (I667V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402788	NM_145018.4(DDIAS):c.8G>A (p.Arg3Lys)	DDIAS (R3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398202	NM_145018.4(DDIAS):c.310C>A (p.Leu104Met)	DDIAS (L104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385079	NM_145018.4(DDIAS):c.2461C>T (p.Pro821Ser)	DDIAS (P821S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368606	NM_145018.4(DDIAS):c.2512A>G (p.Ile838Val)	DDIAS (I838V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356221	NM_145018.4(DDIAS):c.2231A>C (p.His744Pro)	DDIAS (H744P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352972	NM_145018.4(DDIAS):c.2329A>G (p.Ile777Val)	DDIAS (I777V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341593	NM_145018.4(DDIAS):c.341C>G (p.Thr114Ser)	DDIAS (T114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337792	NM_145018.4(DDIAS):c.2143G>A (p.Glu715Lys)	DDIAS (E715K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332701	NM_145018.4(DDIAS):c.96A>G (p.Ile32Met)	DDIAS (I32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311664	NM_145018.4(DDIAS):c.2635G>C (p.Gly879Arg)	DDIAS (G879R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297790	NM_145018.4(DDIAS):c.893T>C (p.Leu298Pro)	DDIAS (L298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294933	NM_145018.4(DDIAS):c.2948C>T (p.Pro983Leu)	DDIAS (P983L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292481	NM_145018.4(DDIAS):c.661G>A (p.Asp221Asn)	DDIAS (D221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270776	NM_145018.4(DDIAS):c.733T>C (p.Phe245Leu)	DDIAS (F245L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270063	NM_145018.4(DDIAS):c.2006A>G (p.Tyr669Cys)	DDIAS (Y669C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263735	NM_145018.4(DDIAS):c.2065A>G (p.Ile689Val)	DDIAS (I689V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261400	NM_145018.4(DDIAS):c.2294G>C (p.Ser765Thr)	DDIAS (S765T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250265	NM_145018.4(DDIAS):c.89C>G (p.Ser30Cys)	DDIAS (S30C)	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 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 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 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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980960	GRCh37/hg19 11q14.1(chr11:82618269-83454773)x3	ANKRD42, CCDC90B +4 more	Copy number gain	not provided	GUncertain significance
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	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 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	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

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 59