FSD1[gene] - ClinVar

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Items: 69

	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 3097165	NM_024333.3(FSD1):c.14G>A (p.Arg5Lys)	FSD1 (R5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377077	NM_024333.3(FSD1):c.100C>G (p.Leu34Val)	FSD1 (L34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280025	NM_024333.3(FSD1):c.167C>T (p.Ser56Phe)	FSD1 (S56F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614609	NM_024333.3(FSD1):c.230C>G (p.Thr77Ser)	FSD1 (T77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777380	NM_024333.3(FSD1):c.249G>A (p.Gln83=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2346687	NM_024333.3(FSD1):c.263C>T (p.Thr88Met)	FSD1 (T88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736221	NM_024333.3(FSD1):c.285G>A (p.Glu95=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790380	NM_024333.3(FSD1):c.345+9C>G	FSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2310806	NM_024333.3(FSD1):c.413T>G (p.Val138Gly)	FSD1 (V138G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280569	NM_024333.3(FSD1):c.487C>T (p.Pro163Ser)	FSD1 (P163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097166	NM_024333.3(FSD1):c.504C>T (p.Pro168=)	FSD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3097167	NM_024333.3(FSD1):c.544G>A (p.Val182Met)	FSD1 (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097168	NM_024333.3(FSD1):c.548C>A (p.Thr183Asn)	FSD1 (T183N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097169	NM_024333.3(FSD1):c.557G>T (p.Trp186Leu)	FSD1 (W186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280023	NM_024333.3(FSD1):c.560G>A (p.Arg187His)	FSD1 (R187H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790199	NM_024333.3(FSD1):c.567G>A (p.Pro189=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3097170	NM_024333.3(FSD1):c.593A>G (p.Tyr198Cys)	FSD1 (Y198C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270151	NM_024333.3(FSD1):c.674T>A (p.Ile225Asn)	FSD1 (I225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350928	NM_024333.3(FSD1):c.676C>T (p.Arg226Trp)	FSD1 (R226W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456835	NM_024333.3(FSD1):c.677G>A (p.Arg226Gln)	FSD1 (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483501	NM_024333.3(FSD1):c.707A>G (p.Lys236Arg)	FSD1 (K236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097171	NM_024333.3(FSD1):c.712G>T (p.Asp238Tyr)	FSD1 (D238Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725443	NM_024333.3(FSD1):c.800-10C>T	FSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3280024	NM_024333.3(FSD1):c.810C>G (p.Phe270Leu)	FSD1 (F270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569721	NM_024333.3(FSD1):c.811C>T (p.Arg271Cys)	FSD1 (R271C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280026	NM_024333.3(FSD1):c.862G>A (p.Val288Met)	FSD1 (V288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280027	NM_024333.3(FSD1):c.887A>G (p.Lys296Arg)	FSD1 (K296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097172	NM_024333.3(FSD1):c.900C>G (p.Ile300Met)	FSD1 (I300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716697	NM_024333.3(FSD1):c.909C>T (p.Arg303=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602710	NM_024333.3(FSD1):c.929G>A (p.Arg310Gln)	FSD1 (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356186	NM_024333.3(FSD1):c.932C>T (p.Thr311Met)	FSD1 (T311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790200	NM_024333.3(FSD1):c.951C>T (p.Ser317=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2554062	NM_024333.3(FSD1):c.967C>G (p.Pro323Ala)	FSD1 (P323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097162	NM_024333.3(FSD1):c.1003C>T (p.Arg335Trp)	FSD1 (R335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097163	NM_024333.3(FSD1):c.1053C>G (p.Ile351Met)	FSD1 (I351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649033	NM_024333.3(FSD1):c.1056C>T (p.Asp352=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3097164	NM_024333.3(FSD1):c.1065G>C (p.Glu355Asp)	FSD1 (E355D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789238	NM_024333.3(FSD1):c.1107C>T (p.Phe369=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773347	NM_024333.3(FSD1):c.1110C>T (p.Gly370=)	FSD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2248144	NM_024333.3(FSD1):c.1184T>C (p.Val395Ala)	FSD1 (V395A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273848	NM_024333.3(FSD1):c.1246G>A (p.Ala416Thr)	FSD1 (A416T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336603	NM_024333.3(FSD1):c.1297C>G (p.Leu433Val)	FSD1 (L433V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2275831	NM_024333.3(FSD1):c.1358A>G (p.Gln453Arg)	FSD1 (S423G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467987	NM_024333.3(FSD1):c.1379C>T (p.Thr460Met)	FSD1 (T460M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597531	NM_024333.3(FSD1):c.1469G>C (p.Ser490Thr)	FSD1 (S490T)	Single nucleotide variant (3 prime UTR variant +1 more)	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 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: 69