STAC[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 57770	GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1	ARPP21, ARPP21-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 767893	NM_003149.3(STAC):c.38A>C (p.Asp13Ala)	STAC (D13A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2514521	NM_003149.3(STAC):c.67G>C (p.Glu23Gln)	STAC (E23Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590685	NM_003149.3(STAC):c.158G>A (p.Arg53Gln)	STAC (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601913	NM_003149.3(STAC):c.184C>A (p.Gln62Lys)	STAC (Q62K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337432	NM_003149.3(STAC):c.188G>A (p.Arg63Gln)	STAC (R63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462174	NM_003149.3(STAC):c.206T>G (p.Met69Arg)	STAC (M69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566392	NM_003149.3(STAC):c.229G>A (p.Ala77Thr)	STAC (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455492	NM_003149.3(STAC):c.308C>T (p.Pro103Leu)	STAC (P103L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2337572	NM_003149.3(STAC):c.364G>A (p.Asp122Asn)	STAC (D122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301908	NM_003149.3(STAC):c.412C>T (p.Arg138Cys)	STAC (R138C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525946	NM_003149.3(STAC):c.442C>T (p.His148Tyr)	STAC (H148Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305078	NM_003149.3(STAC):c.503G>A (p.Arg168Gln)	STAC (R168Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403344	NM_003149.3(STAC):c.601G>C (p.Glu201Gln)	STAC (E140Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382365	NM_003149.3(STAC):c.629C>T (p.Ala210Val)	STAC (A149V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362202	NM_003149.3(STAC):c.655G>A (p.Gly219Ser)	STAC (G158S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323036	NM_003149.3(STAC):c.736G>A (p.Gly246Arg)	STAC (G246R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783216	NM_003149.3(STAC):c.785A>G (p.Asn262Ser)	STAC (N201S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2412256	NM_003149.3(STAC):c.812C>T (p.Ala271Val)	STAC (A210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507656	NM_003149.3(STAC):c.860T>C (p.Met287Thr)	STAC (M226T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323035	NM_003149.3(STAC):c.880T>C (p.Tyr294His)	STAC (Y294H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234508	NM_003149.3(STAC):c.892C>T (p.Pro298Ser)	STAC (P237S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524941	NM_003149.3(STAC):c.998T>C (p.Phe333Ser)	STAC (F333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170854	NM_003149.3(STAC):c.1204A>C (p.Ile402Leu)	STAC (I341L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062747	GRCh37/hg19 3p22.3-22.2(chr3:35969734-37443324)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062694	GRCh37/hg19 3p22.3-22.2(chr3:35970901-37455657)x3	APRG1, DCLK3 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 1341264	GRCh37/hg19 3p22.3-22.2(chr3:36069772-36656234)x3	STAC	Copy number gain	not provided	GUncertain significance
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 38