ANKRD34B[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 2528219	NM_001004441.3(ANKRD34B):c.1397A>G (p.Asn466Ser)	ANKRD34B (N466S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538594	NM_001004441.3(ANKRD34B):c.1325C>T (p.Thr442Ile)	ANKRD34B (T442I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349286	NM_001004441.3(ANKRD34B):c.1266A>C (p.Arg422Ser)	ANKRD34B (R422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297508	NM_001004441.3(ANKRD34B):c.1253C>A (p.Pro418His)	ANKRD34B (P418H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569864	NM_001004441.3(ANKRD34B):c.1035T>G (p.Asp345Glu)	ANKRD34B (D345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319480	NM_001004441.3(ANKRD34B):c.937A>C (p.Ser313Arg)	ANKRD34B (S313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326361	NM_001004441.3(ANKRD34B):c.923C>T (p.Ala308Val)	ANKRD34B (A308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297509	NM_001004441.3(ANKRD34B):c.859T>C (p.Ser287Pro)	ANKRD34B (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528874	NM_001004441.3(ANKRD34B):c.782T>A (p.Val261Glu)	ANKRD34B (V261E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521029	NM_001004441.3(ANKRD34B):c.768G>A (p.Met256Ile)	ANKRD34B (M256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125960	NM_001004441.3(ANKRD34B):c.766A>G (p.Met256Val)	ANKRD34B (M256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297502	NM_001004441.3(ANKRD34B):c.587C>T (p.Ser196Leu)	ANKRD34B (S196L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389687	NM_001004441.3(ANKRD34B):c.556C>G (p.Pro186Ala)	ANKRD34B (P186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297506	NM_001004441.3(ANKRD34B):c.547T>C (p.Cys183Arg)	ANKRD34B (C183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357964	NM_001004441.3(ANKRD34B):c.493C>A (p.Gln165Lys)	ANKRD34B (Q165K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454824	NM_001004441.3(ANKRD34B):c.445A>G (p.Ile149Val)	ANKRD34B (I149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405039	NM_001004441.3(ANKRD34B):c.416G>A (p.Ser139Asn)	ANKRD34B (S139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529115	NM_001004441.3(ANKRD34B):c.382T>A (p.Ser128Thr)	ANKRD34B (S128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125933	NM_001004441.3(ANKRD34B):c.198G>A (p.Met66Ile)	ANKRD34B (M66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125925	NM_001004441.3(ANKRD34B):c.141A>T (p.Leu47Phe)	ANKRD34B (L47F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297510	NM_001004441.3(ANKRD34B):c.125G>C (p.Arg42Pro)	ANKRD34B (R42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125910	NM_001004441.3(ANKRD34B):c.124C>T (p.Arg42Cys)	ANKRD34B (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488012	NM_001004441.3(ANKRD34B):c.104A>G (p.Tyr35Cys)	ANKRD34B (Y35C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297512	NM_001004441.3(ANKRD34B):c.79A>G (p.Arg27Gly)	ANKRD34B (R27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125944	NM_001004441.3(ANKRD34B):c.41T>C (p.Leu14Ser)	ANKRD34B (L14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477846	NM_001004441.3(ANKRD34B):c.23C>T (p.Ser8Leu)	ANKRD34B (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588801	NM_001004441.3(ANKRD34B):c.16G>A (p.Glu6Lys)	ANKRD34B (E6K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125907	NM_001004441.3(ANKRD34B):c.11G>A (p.Gly4Asp)	ANKRD34B (G4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814702	GRCh37/hg19 5q14.1(chr5:79705427-80237350)x3	DHFR, FAM151B +4 more	Copy number gain	not provided	GUncertain significance
Select item 814701	GRCh37/hg19 5q14.1(chr5:79528733-80545287)x3	SPZ1, MTRNR2L2 +8 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 684903	GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3	RASGRF2, SSBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 more	Copy number gain	not provided	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
Select item 395343	GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3	ACOT12, ANKRD34B +9 more	Copy number gain	See cases	GUncertain significance

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Items: 40