ClinVar for Gene (Select 91369) - ClinVar

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

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297611	NM_052855.4(ANKRD40):c.704A>G (p.Asn235Ser)	ANKRD40 (N235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3126413	NM_052855.4(ANKRD40):c.601G>A (p.Glu201Lys)	ANKRD40 (E201K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126404	NM_052855.4(ANKRD40):c.527C>A (p.Pro176His)	ANKRD40 (P176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126388	NM_052855.4(ANKRD40):c.295G>T (p.Asp99Tyr)	ANKRD40 (D99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126380	NM_052855.4(ANKRD40):c.1048G>A (p.Ala350Thr)	ANKRD40 (A350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2512640	NM_052855.4(ANKRD40):c.461C>T (p.Ser154Leu)	ANKRD40 (S154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478719	NM_052855.4(ANKRD40):c.307G>A (p.Asp103Asn)	ANKRD40 (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464170	NM_052855.4(ANKRD40):c.649C>T (p.Arg217Cys)	ANKRD40 (R217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463214	NM_052855.4(ANKRD40):c.614C>T (p.Pro205Leu)	ANKRD40 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455255	NM_052855.4(ANKRD40):c.32A>T (p.Gln11Leu)	ANKRD40 (Q11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358459	NM_052855.4(ANKRD40):c.4A>T (p.Asn2Tyr)	ANKRD40, LOC130061178 (N2Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340860	NM_052855.4(ANKRD40):c.724G>A (p.Ala242Thr)	ANKRD40 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337774	NM_052855.4(ANKRD40):c.689C>T (p.Ser230Phe)	ANKRD40 (S230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328005	NM_052855.4(ANKRD40):c.530G>A (p.Arg177Gln)	ANKRD40 (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319445	NM_052855.4(ANKRD40):c.895G>A (p.Glu299Lys)	ANKRD40 (E299K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289043	NM_052855.4(ANKRD40):c.773T>C (p.Met258Thr)	ANKRD40 (M258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268606	NM_052855.4(ANKRD40):c.868C>A (p.Gln290Lys)	ANKRD40 (Q290K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205473	NM_052855.4(ANKRD40):c.710C>T (p.Thr237Met)	ANKRD40 (T237M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	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 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 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

Links from Gene

Items: 29