STAP2[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 3323084	NM_001013841.2(STAP2):c.1195C>T (p.Arg399Trp)	STAP2 (R399W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330477	NM_001013841.2(STAP2):c.1151T>C (p.Leu384Pro)	STAP2 (L384P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170929	NM_001013841.2(STAP2):c.1075C>T (p.Pro359Ser)	STAP2 (P405S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327485	NM_001013841.2(STAP2):c.1073-43G>T	STAP2 (G390C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649034	NM_001013841.2(STAP2):c.1073-44C>A	STAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649035	NM_001013841.2(STAP2):c.1073-68A>G	STAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2399877	NM_001013841.2(STAP2):c.1073-76C>T	STAP2 (P379S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570310	NM_001013841.2(STAP2):c.1073-100G>A	STAP2 (E371K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170927	NM_001013841.2(STAP2):c.1073-103C>A	STAP2 (L370I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2601688	NM_001013841.2(STAP2):c.998C>T (p.Pro333Leu)	STAP2 (P333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363891	NM_001013841.2(STAP2):c.988T>G (p.Ser330Ala)	STAP2 (S330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327393	NM_001013841.2(STAP2):c.934A>G (p.Thr312Ala)	STAP2 (T312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470069	NM_001013841.2(STAP2):c.931G>A (p.Val311Met)	STAP2 (V311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170934	NM_001013841.2(STAP2):c.872C>T (p.Ala291Val)	STAP2 (A291V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392209	NM_001013841.2(STAP2):c.845C>T (p.Thr282Ile)	STAP2 (T282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275898	NM_001013841.2(STAP2):c.820C>G (p.Pro274Ala)	STAP2 (P274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401279	NM_001013841.2(STAP2):c.797A>C (p.Asn266Thr)	STAP2 (N266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390479	NM_001013841.2(STAP2):c.782A>G (p.Lys261Arg)	STAP2 (K261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170933	NM_001013841.2(STAP2):c.710C>T (p.Thr237Ile)	STAP2 (T237I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323083	NM_001013841.2(STAP2):c.688G>A (p.Val230Ile)	STAP2 (V230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323085	NM_001013841.2(STAP2):c.640G>A (p.Val214Met)	STAP2 (V214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400364	NM_001013841.2(STAP2):c.596A>G (p.His199Arg)	STAP2 (H199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170931	NM_001013841.2(STAP2):c.547G>A (p.Gly183Ser)	LOC130063204, STAP2 (G183S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536493	NM_001013841.2(STAP2):c.547G>C (p.Gly183Arg)	LOC130063204, STAP2 (G183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555706	NM_001013841.2(STAP2):c.532C>T (p.Arg178Trp)	STAP2 (R178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618038	NM_001013841.2(STAP2):c.437G>A (p.Arg146His)	STAP2 (R146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591893	NM_001013841.2(STAP2):c.436C>T (p.Arg146Cys)	STAP2 (R146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345640	NM_001013841.2(STAP2):c.349G>A (p.Val117Met)	STAP2 (V117M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170930	NM_001013841.2(STAP2):c.207G>T (p.Glu69Asp)	STAP2 (E69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265675	NM_001013841.2(STAP2):c.190A>T (p.Asn64Tyr)	STAP2 (N64Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596864	NM_001013841.2(STAP2):c.143T>C (p.Ile48Thr)	STAP2 (I48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170926	NM_001013841.2(STAP2):c.100C>T (p.Arg34Trp)	STAP2 (R34W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370679	NM_001013841.2(STAP2):c.91C>T (p.Pro31Ser)	STAP2 (P31S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323086	NM_001013841.2(STAP2):c.26G>A (p.Arg9His)	STAP2 (R9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3062397	GRCh37/hg19 19p13.3(chr19:4337998-4809241)x1	CHAF1A, DPP9 +11 more	Copy number loss	not specified	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340338	GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	ANKRD24, CHAF1A +13 more	Copy number gain	not provided	GUncertain significance
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	PIAS4, SHD +12 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 59