ClinVar for Gene (Select 80320) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321718	NM_001258248.2(SP6):c.977G>C (p.Ser326Thr)	SP6 (S326T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321717	NM_001258248.2(SP6):c.242T>A (p.Leu81Gln)	SP6 (L81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167945	NM_001258248.2(SP6):c.772A>G (p.Ile258Val)	SP6 (I258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167944	NM_001258248.2(SP6):c.725C>T (p.Pro242Leu)	SP6 (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167943	NM_001258248.2(SP6):c.679G>A (p.Val227Ile)	SP6 (V227I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167942	NM_001258248.2(SP6):c.565G>A (p.Ala189Thr)	SP6 (A189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167941	NM_001258248.2(SP6):c.400C>G (p.His134Asp)	SP6 (H134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167939	NM_001258248.2(SP6):c.1108G>A (p.Gly370Ser)	SP6 (G370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167938	NM_001258248.2(SP6):c.1052G>C (p.Gly351Ala)	SP6 (G351A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024607	NM_001258248.2(SP6):c.1009G>C (p.Glu337Gln)	SP6 (E337Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2620189	NM_001258248.2(SP6):c.137C>T (p.Pro46Leu)	SP6 (P46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617313	NM_001258248.2(SP6):c.22T>C (p.Ser8Pro)	SP6 (S8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591480	NM_001258248.2(SP6):c.1127A>G (p.Asn376Ser)	SP6 (N376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588324	NM_001258248.2(SP6):c.452G>C (p.Gly151Ala)	SP6 (G151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539137	NM_001258248.2(SP6):c.145C>T (p.Pro49Ser)	SP6 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519636	NM_001258248.2(SP6):c.661C>T (p.Arg221Cys)	SP6 (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2401351	NM_001258248.2(SP6):c.449C>A (p.Ala150Glu)	SP6 (A150E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316009	NM_001258248.2(SP6):c.1061G>A (p.Gly354Asp)	SP6 (G354D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283725	NM_001258248.2(SP6):c.1058C>T (p.Ala353Val)	SP6 (A353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223483	NM_001258248.2(SP6):c.289C>A (p.Gln97Lys)	SP6 (Q97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206325	NM_001258248.2(SP6):c.928G>C (p.Gly310Arg)	SP6 (G310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712318	NM_001258248.2(SP6):c.817_818delinsAA (p.Ala273Lys)	SP6	Indel (missense variant)	Amelogenesis imperfecta, IIa 1K	GPathogenic
Select item 997829	NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)	SP6 (A273M)	Indel (missense variant)	Amelogenesis imperfecta, IIa 1K +1 more	GPathogenic
Select item 564451	GRCh37/hg19 17q21.32(chr17:45884442-46124946)x3	PRR15L, SP6 +9 more	Copy number gain	not provided	GUncertain significance
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 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32