26752[HGNC] - ClinVar

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

Search results

Items: 49

	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 155228	GRCh38/hg38 11q14.1(chr11:83066124-84475390)x3	ANKRD42, ANKRD42-DT +28 more	Copy number gain	See cases	GUncertain significance
Select item 3297619	NM_001300975.2(ANKRD42):c.88A>G (p.Ile30Val)	ANKRD42 (I30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126446	NM_001300975.2(ANKRD42):c.104G>A (p.Arg35Gln)	ANKRD42 (R35Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126451	NM_001300975.2(ANKRD42):c.133A>G (p.Ile45Val)	ANKRD42 (I45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277065	NM_001300975.2(ANKRD42):c.134T>C (p.Ile45Thr)	ANKRD42 (I45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515373	NM_001300975.2(ANKRD42):c.272C>T (p.Thr91Met)	ANKRD42 (T63M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256113	NM_001300975.2(ANKRD42):c.317A>T (p.Asp106Val)	ANKRD42 (D106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321740	NM_001300975.2(ANKRD42):c.338T>C (p.Ile113Thr)	ANKRD42 (I113T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126464	NM_001300975.2(ANKRD42):c.376G>A (p.Gly126Arg)	ANKRD42 (G98R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340841	NM_001300975.2(ANKRD42):c.395T>G (p.Leu132Arg)	ANKRD42 (L104R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340795	NM_001300975.2(ANKRD42):c.419T>C (p.Phe140Ser)	ANKRD42 (F112S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126471	NM_001300975.2(ANKRD42):c.428A>T (p.Gln143Leu)	ANKRD42 (Q115L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126476	NM_001300975.2(ANKRD42):c.434T>C (p.Met145Thr)	ANKRD42 (M117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337775	NM_001300975.2(ANKRD42):c.460G>A (p.Val154Met)	ANKRD42 (V153M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297623	NM_001300975.2(ANKRD42):c.467A>G (p.Asp156Gly)	ANKRD42 (D128G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126485	NM_001300975.2(ANKRD42):c.487G>A (p.Val163Met)	ANKRD42 (V135M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308629	NM_001300975.2(ANKRD42):c.512G>A (p.Arg171Gln)	ANKRD42 (R143Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522488	NM_001300975.2(ANKRD42):c.541T>C (p.Trp181Arg)	ANKRD42 (W153R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390377	NM_001300975.2(ANKRD42):c.656C>T (p.Thr219Met)	ANKRD42 (T218M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467325	NM_001300975.2(ANKRD42):c.674T>C (p.Phe225Ser)	ANKRD42 (F197S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345243	NM_001300975.2(ANKRD42):c.677A>G (p.Asn226Ser)	ANKRD42 (N226S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521775	NM_001300975.2(ANKRD42):c.701A>C (p.Asp234Ala)	ANKRD42 (D206A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540901	NM_001300975.2(ANKRD42):c.736C>A (p.Gln246Lys)	ANKRD42 (Q246K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126542	NM_001300975.2(ANKRD42):c.822G>C (p.Lys274Asn)	ANKRD42 (K246N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369556	NM_001300975.2(ANKRD42):c.857A>T (p.Asp286Val)	ANKRD42 (D258V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462324	NM_001300975.2(ANKRD42):c.881G>T (p.Arg294Leu)	ANKRD42 (R294L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284170	NM_001300975.2(ANKRD42):c.881G>A (p.Arg294His)	ANKRD42 (R266H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297628	NM_001300975.2(ANKRD42):c.965C>T (p.Ala322Val)	ANKRD42 (A322V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530116	NM_001300975.2(ANKRD42):c.1054G>A (p.Glu352Lys)	ANKRD42 (E324K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389708	NM_001300975.2(ANKRD42):c.1081G>A (p.Glu361Lys)	ANKRD42 (E333K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599987	NM_001300975.2(ANKRD42):c.1093G>C (p.Asp365His)	ANKRD42 (D364H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243979	NM_001300975.2(ANKRD42):c.1177G>T (p.Asp393Tyr)	ANKRD42 (D365Y +2 more)	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 1808160	GRCh37/hg19 11q14.1(chr11:82859094-83324406)x3	ANKRD42, CCDC90B +2 more	Copy number gain	not provided	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 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 815444	GRCh37/hg19 11q14.1(chr11:82788438-82910068)x1	ANKRD42, PCF11	Copy number loss	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 443209	GRCh37/hg19 11q14.1(chr11:82653859-83566849)x3	ANKRD42, CCDC90B +3 more	Copy number gain	See cases	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

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: 49