ClinVar for Gene (Select 6564) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318889	NM_005073.4(SLC15A1):c.1897G>A (p.Val633Met)	SLC15A1 (V633M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318888	NM_005073.4(SLC15A1):c.227C>T (p.Ser76Leu)	SLC15A1 (S76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318887	NM_005073.4(SLC15A1):c.1730A>G (p.Asn577Ser)	SLC15A1 (N577S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163000	NM_005073.4(SLC15A1):c.923C>G (p.Ala308Gly)	SLC15A1 (A308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162999	NM_005073.4(SLC15A1):c.815G>A (p.Arg272Gln)	SLC15A1 (R272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162998	NM_005073.4(SLC15A1):c.800A>G (p.Glu267Gly)	SLC15A1 (E267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162997	NM_005073.4(SLC15A1):c.683C>T (p.Pro228Leu)	SLC15A1 (P228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162996	NM_005073.4(SLC15A1):c.549G>A (p.Met183Ile)	SLC15A1 (M183I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3162995	NM_005073.4(SLC15A1):c.525G>C (p.Leu175Phe)	SLC15A1 (L175F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162994	NM_005073.4(SLC15A1):c.44G>A (p.Ser15Asn)	SLC15A1 (S15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162992	NM_005073.4(SLC15A1):c.1741A>G (p.Met581Val)	SLC15A1 (M581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162991	NM_005073.4(SLC15A1):c.1615T>C (p.Cys539Arg)	SLC15A1 (C539R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162990	NM_005073.4(SLC15A1):c.160G>A (p.Ala54Thr)	SLC15A1 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162989	NM_005073.4(SLC15A1):c.1379A>T (p.His460Leu)	SLC15A1 (H460L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162988	NM_005073.4(SLC15A1):c.1132G>A (p.Val378Met)	SLC15A1 (V378M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	PCCA, POGLUT2 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2608896	NM_005073.4(SLC15A1):c.452T>C (p.Phe151Ser)	SLC15A1 (F151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601851	NM_005073.4(SLC15A1):c.1399C>T (p.Pro467Ser)	SLC15A1 (P467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589004	NM_005073.4(SLC15A1):c.1571G>A (p.Gly524Asp)	SLC15A1 (G524D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2559507	NM_005073.4(SLC15A1):c.278T>C (p.Ile93Thr)	SLC15A1 (I93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554454	NM_005073.4(SLC15A1):c.1081A>G (p.Met361Val)	SLC15A1 (M361V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485196	NM_005073.4(SLC15A1):c.1825C>G (p.Gln609Glu)	SLC15A1 (Q609E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479001	NM_005073.4(SLC15A1):c.1000G>A (p.Val334Met)	SLC15A1 (V334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463277	NM_005073.4(SLC15A1):c.1573A>G (p.Ile525Val)	SLC15A1 (I525V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2425688	NC_000013.10:g.(?_99336978)_(102379160_?)del	CLYBL, DOCK9 +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2410281	NM_005073.4(SLC15A1):c.1965G>C (p.Leu655Phe)	SLC15A1 (L655F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385367	NM_005073.4(SLC15A1):c.1847C>T (p.Ser616Leu)	SLC15A1 (S616L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378698	NM_005073.4(SLC15A1):c.842C>T (p.Thr281Met)	SLC15A1 (T281M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343339	NM_005073.4(SLC15A1):c.701G>A (p.Gly234Asp)	SLC15A1 (G234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327480	NM_005073.4(SLC15A1):c.749A>G (p.His250Arg)	SLC15A1 (H250R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311071	NM_005073.4(SLC15A1):c.544C>T (p.Pro182Ser)	SLC15A1 (P182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297338	NM_005073.4(SLC15A1):c.687G>C (p.Gln229His)	SLC15A1 (Q229H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292282	NM_005073.4(SLC15A1):c.262T>A (p.Ser88Thr)	SLC15A1 (S88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290843	NM_005073.4(SLC15A1):c.2000C>G (p.Ala667Gly)	SLC15A1 (A667G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284893	NM_005073.4(SLC15A1):c.1505T>C (p.Met502Thr)	SLC15A1 (M502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282709	NM_005073.4(SLC15A1):c.1582T>C (p.Phe528Leu)	SLC15A1 (F528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280400	NM_005073.4(SLC15A1):c.583C>A (p.Gln195Lys)	SLC15A1 (Q195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271599	NM_005073.4(SLC15A1):c.1856A>G (p.Gln619Arg)	SLC15A1 (Q619R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237780	NM_005073.4(SLC15A1):c.2003G>A (p.Arg668Gln)	SLC15A1 (R668Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230682	NM_005073.4(SLC15A1):c.58G>A (p.Val20Met)	SLC15A1 (V20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224623	NM_005073.4(SLC15A1):c.1286C>T (p.Thr429Ile)	SLC15A1 (T429I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215058	NM_005073.4(SLC15A1):c.470A>G (p.Lys157Arg)	SLC15A1 (K157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213628	NM_005073.4(SLC15A1):c.1842G>A (p.Met614Ile)	SLC15A1 (M614I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1694714	GRCh37/hg19 13q32.2-32.3(chr13:98865497-99630163)x3	DOCK9, FARP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1527790	GRCh37/hg19 13q32.1-32.3(chr13:95677119-100521192)	ABCC4, CLDN10 +18 more	Copy number loss	not specified	GUncertain significance
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1275753	NC_000013.10:g.99162946_101376965del	CLYBL, DOCK9 +11 more	Deletion	Lobar holoprosencephaly	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 781266	NM_005073.4(SLC15A1):c.364G>A (p.Val122Met)	SLC15A1 (V122M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776807	NM_005073.4(SLC15A1):c.1179C>T (p.Asn393=)	SLC15A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776806	NM_005073.4(SLC15A1):c.1446A>G (p.Glu482=)	SLC15A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730415	NM_005073.4(SLC15A1):c.258G>A (p.Ser86=)	SLC15A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719990	NM_005073.4(SLC15A1):c.1150-10T>C	SLC15A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 443022	GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3	BIVM, BIVM-ERCC5 +26 more	Copy number gain	See cases	GLikely pathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442644	GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)x3	RNF113B, SLC15A1 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 442413	GRCh37/hg19 13q32.3(chr13:99333632-100773336)x1	CLYBL, DOCK9 +8 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	TGDS, TM9SF2 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic

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