220042[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 59

	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 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
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 2250265	NM_145018.4(DDIAS):c.89C>G (p.Ser30Cys)	DDIAS (S30C)	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 3080744	NM_145018.4(DDIAS):c.103G>A (p.Val35Ile)	DDIAS (V35I)	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 3080751	NM_145018.4(DDIAS):c.316A>G (p.Asn106Asp)	DDIAS (N106D)	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 2341593	NM_145018.4(DDIAS):c.341C>G (p.Thr114Ser)	DDIAS (T114S)	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 3080754	NM_145018.4(DDIAS):c.438C>A (p.Phe146Leu)	DDIAS (F146L)	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 3080756	NM_145018.4(DDIAS):c.568T>A (p.Phe190Ile)	DDIAS (F190I)	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 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 2297790	NM_145018.4(DDIAS):c.893T>C (p.Leu298Pro)	DDIAS (L298P)	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 2544918	NM_145018.4(DDIAS):c.1165G>T (p.Ala389Ser)	DDIAS (A389S)	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 2544071	NM_145018.4(DDIAS):c.1379G>A (p.Arg460Lys)	DDIAS (R460K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3080745	NM_145018.4(DDIAS):c.1468T>A (p.Cys490Ser)	DDIAS (C490S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2480012	NM_145018.4(DDIAS):c.1698G>C (p.Glu566Asp)	DDIAS (E566D)	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 3080747	NM_145018.4(DDIAS):c.1970T>C (p.Ile657Thr)	DDIAS (I657T)	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 2474939	NM_145018.4(DDIAS):c.1999A>G (p.Ile667Val)	DDIAS (I667V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2337792	NM_145018.4(DDIAS):c.2143G>A (p.Glu715Lys)	DDIAS (E715K)	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 2509603	NM_145018.4(DDIAS):c.2228G>A (p.Arg743Lys)	DDIAS (R743K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2532091	NM_145018.4(DDIAS):c.2246C>T (p.Ser749Phe)	DDIAS (S749F)	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 2352972	NM_145018.4(DDIAS):c.2329A>G (p.Ile777Val)	DDIAS (I777V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2311664	NM_145018.4(DDIAS):c.2635G>C (p.Gly879Arg)	DDIAS (G879R)	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 3271196	NM_145018.4(DDIAS):c.2818A>G (p.Lys940Glu)	DDIAS (K940E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2294933	NM_145018.4(DDIAS):c.2948C>T (p.Pro983Leu)	DDIAS (P983L)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 59