ClinVar for Gene (Select 10864) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163488	NM_153320.2(SLC22A7):c.970G>A (p.Ala324Thr)	SLC22A7 (A324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163487	NM_153320.2(SLC22A7):c.731T>G (p.Val244Gly)	SLC22A7 (V242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163486	NM_153320.2(SLC22A7):c.511C>T (p.Arg171Trp)	SLC22A7 (R169W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163485	NM_153320.2(SLC22A7):c.25C>G (p.Gln9Glu)	SLC22A7 (Q9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163484	NM_153320.2(SLC22A7):c.1625C>T (p.Pro542Leu)	SLC22A7 (P540L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163483	NM_153320.2(SLC22A7):c.1463G>A (p.Gly488Glu)	SLC22A7 (G486E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163482	NM_153320.2(SLC22A7):c.1311G>A (p.Met437Ile)	SLC22A7 (M437I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592078	NM_153320.2(SLC22A7):c.1051G>A (p.Val351Met)	SLC22A7 (V351M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546354	NM_153320.2(SLC22A7):c.812G>A (p.Gly271Asp)	SLC22A7 (G269D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538630	NM_153320.2(SLC22A7):c.395C>T (p.Ser132Phe)	SLC22A7 (S132F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530982	NM_153320.2(SLC22A7):c.965T>C (p.Val322Ala)	SLC22A7 (V320A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482473	NM_153320.2(SLC22A7):c.422A>G (p.Lys141Arg)	SLC22A7 (K141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470275	NM_153320.2(SLC22A7):c.1252G>A (p.Gly418Ser)	SLC22A7 (G418S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2407265	NM_153320.2(SLC22A7):c.1147G>A (p.Gly383Arg)	SLC22A7 (G383R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406489	NM_153320.2(SLC22A7):c.1535T>G (p.Leu512Arg)	SLC22A7 (L512R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363796	NM_153320.2(SLC22A7):c.763C>T (p.Arg255Trp)	SLC22A7 (R253W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360121	NM_153320.2(SLC22A7):c.905C>T (p.Ala302Val)	SLC22A7 (A300V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330558	NM_153320.2(SLC22A7):c.1024C>T (p.Arg342Trp)	SLC22A7 (R340W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316845	NM_153320.2(SLC22A7):c.512G>A (p.Arg171Gln)	SLC22A7 (R169Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299645	NM_153320.2(SLC22A7):c.707G>A (p.Ser236Asn)	SLC22A7 (S236N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284318	NM_153320.2(SLC22A7):c.749T>C (p.Val250Ala)	SLC22A7 (V248A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283610	NM_153320.2(SLC22A7):c.16C>G (p.Leu6Val)	SLC22A7 (L6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249972	NM_153320.2(SLC22A7):c.1448C>A (p.Ala483Glu)	SLC22A7 (A481E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238397	NM_153320.2(SLC22A7):c.34G>A (p.Gly12Ser)	SLC22A7 (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227911	NM_153320.2(SLC22A7):c.44C>T (p.Pro15Leu)	SLC22A7 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227577	NM_153320.2(SLC22A7):c.689C>T (p.Thr230Ile)	SLC22A7 (T228I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222504	NM_153320.2(SLC22A7):c.155C>T (p.Pro52Leu)	SLC22A7 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219171	NM_153320.2(SLC22A7):c.245G>A (p.Arg82His)	SLC22A7 (R82H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216319	NM_153320.2(SLC22A7):c.1475C>T (p.Ser492Leu)	SLC22A7 (S490L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	KLHDC3, LRRC73 +27 more	Deletion	not provided	GPathogenic
Select item 768096	NM_153320.2(SLC22A7):c.222T>C (p.Asp74=)	SLC22A7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 41