ANKRD42[gene] - ClinVar

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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

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Items: 49