SKAP1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +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)	Inborn genetic diseases	GUncertain significance
Select item 2467611	NM_003726.4(SKAP1):c.1020C>G (p.Ser340Arg)	SKAP1 (S340R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261200	NM_003726.4(SKAP1):c.952G>A (p.Gly318Ser)	SKAP1 (G317S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407798	NM_003726.4(SKAP1):c.931G>A (p.Asp311Asn)	SKAP1 (D310N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253775	NM_003726.4(SKAP1):c.620T>C (p.Phe207Ser)	SKAP1 (F207S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617245	NM_003726.4(SKAP1):c.542C>T (p.Thr181Ile)	SKAP1 (T181I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373537	NM_003726.4(SKAP1):c.515C>T (p.Ser172Phe)	SKAP1 (S172F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273780	NM_003726.4(SKAP1):c.458G>A (p.Gly153Glu)	SKAP1 (G153E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203935	NM_003726.4(SKAP1):c.377C>T (p.Ser126Leu)	SKAP1 (S126L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286247	NM_003726.4(SKAP1):c.250G>A (p.Ala84Thr)	SKAP1 (A84T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554407	NM_003726.4(SKAP1):c.247G>A (p.Asp83Asn)	SKAP1 (D83N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231687	NM_003726.4(SKAP1):c.195G>T (p.Gln65His)	SKAP1 (Q65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509302	NM_003726.4(SKAP1):c.188T>C (p.Ile63Thr)	SKAP1 (I63T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396703	NM_003726.4(SKAP1):c.28A>T (p.Ile10Phe)	SKAP1 (I10F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	EFCAB13, GOSR2 +24 more	Copy number gain	PNPO-related disorders	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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22