ClinVar for Gene (Select 1901) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315954	NM_001400.5(S1PR1):c.647C>G (p.Ser216Cys)	S1PR1 (S216C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157415	NM_001400.5(S1PR1):c.44C>T (p.Ser15Leu)	S1PR1 (S15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2621726	NM_001400.5(S1PR1):c.430A>G (p.Ile144Val)	S1PR1 (I144V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549466	NM_001400.5(S1PR1):c.329A>T (p.Tyr110Phe)	S1PR1 (Y110F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534000	NM_001400.5(S1PR1):c.1004A>G (p.Asp335Gly)	S1PR1 (D335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518779	NM_001400.5(S1PR1):c.1000G>A (p.Gly334Arg)	S1PR1 (G334R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462641	NM_001400.5(S1PR1):c.192C>G (p.Ile64Met)	S1PR1 (I64M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 2333853	NM_001400.5(S1PR1):c.719A>G (p.Asn240Ser)	S1PR1 (N240S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285462	NM_001400.5(S1PR1):c.553A>G (p.Ile185Val)	S1PR1 (I185V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276643	NM_001400.5(S1PR1):c.1032C>G (p.Ile344Met)	S1PR1 (I344M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 992749	Single allele	AMY1B, AMY1C +10 more	Deletion	Seizure	GUncertain significance
Select item 784445	NM_001400.5(S1PR1):c.32C>A (p.Ala11Asp)	S1PR1 (A11D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778234	NM_001400.5(S1PR1):c.651C>T (p.Ile217=)	S1PR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 24