ANKRD40[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2319445	NM_052855.4(ANKRD40):c.895G>A (p.Glu299Lys)	ANKRD40 (E299K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268606	NM_052855.4(ANKRD40):c.868C>A (p.Gln290Lys)	ANKRD40 (Q290K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289043	NM_052855.4(ANKRD40):c.773T>C (p.Met258Thr)	ANKRD40 (M258T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340860	NM_052855.4(ANKRD40):c.724G>A (p.Ala242Thr)	ANKRD40 (A242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205473	NM_052855.4(ANKRD40):c.710C>T (p.Thr237Met)	ANKRD40 (T237M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337774	NM_052855.4(ANKRD40):c.689C>T (p.Ser230Phe)	ANKRD40 (S230F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464170	NM_052855.4(ANKRD40):c.649C>T (p.Arg217Cys)	ANKRD40 (R217C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463214	NM_052855.4(ANKRD40):c.614C>T (p.Pro205Leu)	ANKRD40 (P205L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328005	NM_052855.4(ANKRD40):c.530G>A (p.Arg177Gln)	ANKRD40 (R177Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512640	NM_052855.4(ANKRD40):c.461C>T (p.Ser154Leu)	ANKRD40 (S154L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478719	NM_052855.4(ANKRD40):c.307G>A (p.Asp103Asn)	ANKRD40 (D103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455255	NM_052855.4(ANKRD40):c.32A>T (p.Gln11Leu)	ANKRD40 (Q11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358459	NM_052855.4(ANKRD40):c.4A>T (p.Asn2Tyr)	ANKRD40, LOC130061178 (N2Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 22