ANKRA2[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 2560048	NM_023039.5(ANKRA2):c.905C>T (p.Ser302Leu)	ANKRA2 (S302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296152	NM_023039.5(ANKRA2):c.659C>T (p.Ser220Leu)	ANKRA2 (S220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122021	NM_023039.5(ANKRA2):c.622C>A (p.Pro208Thr)	ANKRA2 (P208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309679	NM_023039.5(ANKRA2):c.595G>C (p.Glu199Gln)	ANKRA2 (E199Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122007	NM_023039.5(ANKRA2):c.350C>G (p.Pro117Arg)	ANKRA2 (P117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296135	NM_023039.5(ANKRA2):c.338A>G (p.His113Arg)	ANKRA2 (H113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276925	NM_023039.5(ANKRA2):c.331G>C (p.Val111Leu)	ANKRA2 (V111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296146	NM_023039.5(ANKRA2):c.320C>T (p.Pro107Leu)	ANKRA2 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122002	NM_023039.5(ANKRA2):c.310T>A (p.Ser104Thr)	ANKRA2 (S104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121998	NM_023039.5(ANKRA2):c.297C>G (p.Cys99Trp)	ANKRA2 (C99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121994	NM_023039.5(ANKRA2):c.208A>C (p.Lys70Gln)	ANKRA2 (K70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545437	NM_023039.5(ANKRA2):c.172A>G (p.Asn58Asp)	ANKRA2 (N58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121986	NM_023039.5(ANKRA2):c.145G>A (p.Ala49Thr)	ANKRA2 (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532687	NM_023039.5(ANKRA2):c.95T>C (p.Ile32Thr)	ANKRA2 (I32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470060	NM_023039.5(ANKRA2):c.60C>A (p.Ser20Arg)	ANKRA2 (S20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684418	GRCh37/hg19 5q13.2-13.3(chr5:72551652-73317520)x3	ANKRA2, ARHGEF28 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814694	GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3	ANKRA2, FAM169A +6 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 23