SKAP1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 2298581	NM_003726.4(SKAP1):c.1066G>A (p.Val356Met)	SKAP1 (V355M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467611	NM_003726.4(SKAP1):c.1020C>G (p.Ser340Arg)	SKAP1 (S340R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162605	NM_003726.4(SKAP1):c.965G>A (p.Arg322His)	SKAP1 (R321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261200	NM_003726.4(SKAP1):c.952G>A (p.Gly318Ser)	SKAP1 (G317S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162604	NM_003726.4(SKAP1):c.950G>A (p.Arg317Gln)	SKAP1 (R317Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407798	NM_003726.4(SKAP1):c.931G>A (p.Asp311Asn)	SKAP1 (D310N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162603	NM_003726.4(SKAP1):c.718T>G (p.Ser240Ala)	SKAP1 (S240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253775	NM_003726.4(SKAP1):c.620T>C (p.Phe207Ser)	SKAP1 (F207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162601	NM_003726.4(SKAP1):c.618T>G (p.Ser206Arg)	SKAP1 (S206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617245	NM_003726.4(SKAP1):c.542C>T (p.Thr181Ile)	SKAP1 (T181I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373537	NM_003726.4(SKAP1):c.515C>T (p.Ser172Phe)	SKAP1 (S172F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273780	NM_003726.4(SKAP1):c.458G>A (p.Gly153Glu)	SKAP1 (G153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318691	NM_003726.4(SKAP1):c.428A>G (p.Tyr143Cys)	SKAP1 (Y143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203935	NM_003726.4(SKAP1):c.377C>T (p.Ser126Leu)	SKAP1 (S126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286247	NM_003726.4(SKAP1):c.250G>A (p.Ala84Thr)	SKAP1 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554407	NM_003726.4(SKAP1):c.247G>A (p.Asp83Asn)	SKAP1 (D83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231687	NM_003726.4(SKAP1):c.195G>T (p.Gln65His)	SKAP1 (Q65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162600	NM_003726.4(SKAP1):c.188T>A (p.Ile63Asn)	SKAP1 (I63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509302	NM_003726.4(SKAP1):c.188T>C (p.Ile63Thr)	SKAP1 (I63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162599	NM_003726.4(SKAP1):c.165T>G (p.Asp55Glu)	SKAP1 (D55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318690	NM_003726.4(SKAP1):c.77G>A (p.Arg26Gln)	SKAP1 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396703	NM_003726.4(SKAP1):c.28A>T (p.Ile10Phe)	SKAP1 (I10F)	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 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
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

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Items: 30