GORASP1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 782424	NM_031899.4(GORASP1):c.1295G>A (p.Ser432Asn)	GORASP1 (S277N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3100995	NM_031899.4(GORASP1):c.1294A>G (p.Ser432Gly)	GORASP1 (S277G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786874	NM_031899.4(GORASP1):c.1272G>T (p.Gly424=)	GORASP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2282170	NM_031899.4(GORASP1):c.1235A>G (p.Glu412Gly)	GORASP1 (E257G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218179	NM_031899.4(GORASP1):c.1226C>T (p.Ala409Val)	GORASP1 (A379V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592585	NM_031899.4(GORASP1):c.1099G>A (p.Glu367Lys)	GORASP1 (E367K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233057	NM_031899.4(GORASP1):c.1098T>G (p.Phe366Leu)	GORASP1 (F211L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511945	NM_031899.4(GORASP1):c.1064G>A (p.Arg355Gln)	GORASP1 (R200Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468823	NM_031899.4(GORASP1):c.1063C>T (p.Arg355Trp)	GORASP1 (R325W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100994	NM_031899.4(GORASP1):c.1004C>T (p.Thr335Ile)	GORASP1 (T275I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101004	NM_031899.4(GORASP1):c.947T>C (p.Leu316Ser)	GORASP1 (L221S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101003	NM_031899.4(GORASP1):c.932C>T (p.Ser311Leu)	GORASP1 (S216L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526163	NM_031899.4(GORASP1):c.928G>A (p.Val310Met)	GORASP1 (V250M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230455	NM_031899.4(GORASP1):c.904G>A (p.Val302Ile)	GORASP1 (V272I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101001	NM_031899.4(GORASP1):c.842A>T (p.Asp281Val)	GORASP1 (D186V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101000	NM_031899.4(GORASP1):c.715G>A (p.Glu239Lys)	GORASP1 (E209K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309400	NM_031899.4(GORASP1):c.697C>T (p.Pro233Ser)	GORASP1 (P203S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100999	NM_031899.4(GORASP1):c.668C>T (p.Pro223Leu)	GORASP1 (P68L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100998	NM_031899.4(GORASP1):c.661G>C (p.Ala221Pro)	GORASP1 (A221P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539464	NM_031899.4(GORASP1):c.631A>C (p.Lys211Gln)	GORASP1 (K116Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100997	NM_031899.4(GORASP1):c.617C>A (p.Pro206His)	GORASP1 (P51H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395442	NM_031899.4(GORASP1):c.610A>G (p.Thr204Ala)	GORASP1 (T109A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205968	NM_031899.4(GORASP1):c.601C>T (p.Arg201Trp)	GORASP1 (R201W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 716100	NM_031899.4(GORASP1):c.567-5G>A	GORASP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3100996	NM_031899.4(GORASP1):c.452C>T (p.Thr151Met)	GORASP1 (T151M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249651	NM_031899.4(GORASP1):c.416C>T (p.Ser139Leu)	GORASP1 (S44L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653683	NM_031899.4(GORASP1):c.380C>T (p.Ala127Val)	GORASP1 (A127V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2217145	NM_031899.4(GORASP1):c.353T>C (p.Val118Ala)	GORASP1 (V23A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520330	NM_031899.4(GORASP1):c.327T>A (p.Ser109Arg)	GORASP1 (S109R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 712346	NM_031899.4(GORASP1):c.273C>T (p.Gly91=)	GORASP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 787584	NM_031899.4(GORASP1):c.92C>T (p.Ala31Val)	GORASP1 (A31V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
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 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 38