"Ambry Genetics"[submitter] AND "DIPK1B"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3082492	NM_152421.4(DIPK1B):c.26A>G (p.His9Arg)	DIPK1B (H9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593250	NM_152421.4(DIPK1B):c.44C>G (p.Pro15Arg)	DIPK1B (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082510	NM_152421.4(DIPK1B):c.88C>T (p.Arg30Cys)	DIPK1B (R30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521180	NM_152421.4(DIPK1B):c.96C>G (p.Ile32Met)	DIPK1B (I32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082487	NM_152421.4(DIPK1B):c.161C>T (p.Ser54Leu)	DIPK1B (S54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272116	NM_152421.4(DIPK1B):c.163G>A (p.Glu55Lys)	DIPK1B (E55K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082488	NM_152421.4(DIPK1B):c.175G>A (p.Gly59Ser)	DIPK1B (G59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082489	NM_152421.4(DIPK1B):c.235G>A (p.Val79Ile)	DIPK1B (V79I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082490	NM_152421.4(DIPK1B):c.264G>A (p.Met88Ile)	DIPK1B (M88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082491	NM_152421.4(DIPK1B):c.265G>C (p.Val89Leu)	DIPK1B (V89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272120	NM_152421.4(DIPK1B):c.286T>C (p.Ser96Pro)	DIPK1B (S96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082493	NM_152421.4(DIPK1B):c.290T>C (p.Val97Ala)	DIPK1B (V97A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082494	NM_152421.4(DIPK1B):c.296C>T (p.Pro99Leu)	DIPK1B (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082495	NM_152421.4(DIPK1B):c.382C>T (p.Arg128Trp)	DIPK1B (R128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272114	NM_152421.4(DIPK1B):c.383G>A (p.Arg128Gln)	DIPK1B (R128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272117	NM_152421.4(DIPK1B):c.386C>T (p.Ser129Leu)	DIPK1B (S129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082496	NM_152421.4(DIPK1B):c.394G>A (p.Ala132Thr)	DIPK1B (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082497	NM_152421.4(DIPK1B):c.425A>G (p.Lys142Arg)	DIPK1B (K142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082499	NM_152421.4(DIPK1B):c.449A>G (p.Lys150Arg)	DIPK1B (K150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082498	NM_152421.4(DIPK1B):c.449A>C (p.Lys150Thr)	DIPK1B (K150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082500	NM_152421.4(DIPK1B):c.457C>T (p.Arg153Trp)	DIPK1B (R153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082501	NM_152421.4(DIPK1B):c.506C>T (p.Ser169Phe)	DIPK1B (S169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082502	NM_152421.4(DIPK1B):c.512C>T (p.Pro171Leu)	DIPK1B (P171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082503	NM_152421.4(DIPK1B):c.553A>G (p.Lys185Glu)	DIPK1B (K185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272118	NM_152421.4(DIPK1B):c.653C>T (p.Ala218Val)	DIPK1B (A218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467330	NM_152421.4(DIPK1B):c.698G>A (p.Gly233Asp)	DIPK1B (G233D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082504	NM_152421.4(DIPK1B):c.710G>A (p.Gly237Asp)	DIPK1B (G237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512698	NM_152421.4(DIPK1B):c.746G>A (p.Arg249His)	DIPK1B (R249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082505	NM_152421.4(DIPK1B):c.775G>A (p.Ala259Thr)	DIPK1B (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082506	NM_152421.4(DIPK1B):c.812G>A (p.Arg271Gln)	DIPK1B (R271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272121	NM_152421.4(DIPK1B):c.814G>A (p.Ala272Thr)	DIPK1B (A272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082507	NM_152421.4(DIPK1B):c.824C>T (p.Ala275Val)	DIPK1B (A275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082508	NM_152421.4(DIPK1B):c.847G>C (p.Glu283Gln)	DIPK1B (E283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082509	NM_152421.4(DIPK1B):c.871G>A (p.Gly291Arg)	DIPK1B (G291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082511	NM_152421.4(DIPK1B):c.943G>A (p.Asp315Asn)	DIPK1B (D315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082512	NM_152421.4(DIPK1B):c.965A>C (p.Glu322Ala)	DIPK1B (E322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082513	NM_152421.4(DIPK1B):c.994C>T (p.Arg332Cys)	DIPK1B (R332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455445	NM_152421.4(DIPK1B):c.995G>A (p.Arg332His)	DIPK1B (R332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272115	NM_152421.4(DIPK1B):c.997C>G (p.Arg333Gly)	DIPK1B (R333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549308	NM_152421.4(DIPK1B):c.1089G>C (p.Gln363His)	DIPK1B (Q363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082480	NM_152421.4(DIPK1B):c.1120C>T (p.Arg374Trp)	DIPK1B (R374W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082481	NM_152421.4(DIPK1B):c.1121G>A (p.Arg374Gln)	DIPK1B (R374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527398	NM_152421.4(DIPK1B):c.1139G>A (p.Gly380Asp)	DIPK1B (G380D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589373	NM_152421.4(DIPK1B):c.1157G>A (p.Arg386His)	DIPK1B (R386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082482	NM_152421.4(DIPK1B):c.1159G>A (p.Glu387Lys)	DIPK1B (E387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082483	NM_152421.4(DIPK1B):c.1201G>A (p.Gly401Arg)	DIPK1B, LOC124375246 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082484	NM_152421.4(DIPK1B):c.1220A>G (p.Glu407Gly)	DIPK1B, LOC124375246 (E407G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082485	NM_152421.4(DIPK1B):c.1244G>A (p.Ser415Asn)	DIPK1B, LOC124375246 (S415N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082486	NM_152421.4(DIPK1B):c.1271A>T (p.Lys424Met)	DIPK1B, LOC124375246 (K424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 49