"Ambry Genetics"[submitter] AND "ZBTB48"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2306721	NM_005341.4(ZBTB48):c.159C>A (p.Ser53Arg)	ZBTB48 (S53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591800	NM_005341.4(ZBTB48):c.178G>C (p.Gly60Arg)	ZBTB48 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273495	NM_005341.4(ZBTB48):c.373G>C (p.Gly125Arg)	ZBTB48 (G125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312448	NM_005341.4(ZBTB48):c.391G>A (p.Gly131Arg)	ZBTB48 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333970	NM_005341.4(ZBTB48):c.419G>T (p.Ser140Ile)	ZBTB48 (S140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473675	NM_005341.4(ZBTB48):c.434C>T (p.Pro145Leu)	ZBTB48 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333975	NM_005341.4(ZBTB48):c.629G>A (p.Cys210Tyr)	ZBTB48 (C210Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621472	NM_005341.4(ZBTB48):c.712G>A (p.Glu238Lys)	ZBTB48 (E238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333973	NM_005341.4(ZBTB48):c.791C>T (p.Pro264Leu)	ZBTB48 (P264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333971	NM_005341.4(ZBTB48):c.826C>G (p.Leu276Val)	ZBTB48 (L276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559216	NM_005341.4(ZBTB48):c.835G>A (p.Glu279Lys)	ZBTB48 (E279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463606	NM_005341.4(ZBTB48):c.953C>G (p.Pro318Arg)	ZBTB48 (P318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321279	NM_005341.4(ZBTB48):c.964C>T (p.Pro322Ser)	ZBTB48 (P322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616266	NM_005341.4(ZBTB48):c.983A>C (p.Tyr328Ser)	ZBTB48 (Y328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537863	NM_005341.4(ZBTB48):c.989G>C (p.Arg330Pro)	ZBTB48 (R330P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192153	NM_005341.4(ZBTB48):c.1019G>A (p.Arg340Gln)	ZBTB48 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595232	NM_005341.4(ZBTB48):c.1052C>T (p.Thr351Met)	ZBTB48 (T351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603566	NM_005341.4(ZBTB48):c.1058C>G (p.Ser353Cys)	ZBTB48 (S353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605576	NM_005341.4(ZBTB48):c.1127T>C (p.Met376Thr)	ZBTB48 (M376T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368637	NM_005341.4(ZBTB48):c.1145C>T (p.Ser382Phe)	ZBTB48 (S382F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192154	NM_005341.4(ZBTB48):c.1359G>A (p.Met453Ile)	ZBTB48 (M453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285616	NM_005341.4(ZBTB48):c.1453C>T (p.Arg485Cys)	ZBTB48 (R485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333974	NM_005341.4(ZBTB48):c.1564A>G (p.Ser522Gly)	ZBTB48 (S522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333976	NM_005341.4(ZBTB48):c.1618G>T (p.Val540Leu)	ZBTB48 (V540L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292581	NM_005341.4(ZBTB48):c.1634A>C (p.Gln545Pro)	ZBTB48 (Q545P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358248	NM_005341.4(ZBTB48):c.1643G>A (p.Arg548Gln)	ZBTB48 (R548Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533433	NM_005341.4(ZBTB48):c.1735G>A (p.Glu579Lys)	ZBTB48 (E579K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395059	NM_005341.4(ZBTB48):c.1801G>A (p.Asp601Asn)	ZBTB48 (D601N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192155	NM_005341.4(ZBTB48):c.1855G>A (p.Glu619Lys)	ZBTB48 (E619K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220518	NM_005341.4(ZBTB48):c.1889C>T (p.Pro630Leu)	ZBTB48 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333977	NM_005341.4(ZBTB48):c.1925T>C (p.Ile642Thr)	ZBTB48 (I642T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411752	NM_005341.4(ZBTB48):c.2002G>A (p.Gly668Ser)	ZBTB48 (G668S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531561	NM_005341.4(ZBTB48):c.2024C>G (p.Ser675Cys)	ZBTB48 (S675C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 33