ClinVar for Gene (Select 159371) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319641	NM_001134658.3(SLC35G1):c.646G>A (p.Glu216Lys)	SLC35G1 (E199K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319640	NM_001134658.3(SLC35G1):c.229T>G (p.Leu77Val)	SLC35G1 (L77V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164450	NM_001134658.3(SLC35G1):c.85G>A (p.Glu29Lys)	LOC130004379, SLC35G1 (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164449	NM_001134658.3(SLC35G1):c.635C>T (p.Ser212Leu)	SLC35G1 (S211L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3164448	NM_001134658.3(SLC35G1):c.605G>C (p.Arg202Thr)	SLC35G1 (R185T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164447	NM_001134658.3(SLC35G1):c.541A>G (p.Lys181Glu)	SLC35G1 (K181E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164446	NM_001134658.3(SLC35G1):c.449C>T (p.Ala150Val)	SLC35G1 (A150V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164445	NM_001134658.3(SLC35G1):c.351A>G (p.Ile117Met)	SLC35G1 (I100M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640701	NM_001134658.3(SLC35G1):c.864C>G (p.Leu288=)	SLC35G1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613110	NM_001134658.3(SLC35G1):c.109G>C (p.Ala37Pro)	LOC130004379, SLC35G1 (A37P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604797	NM_001134658.3(SLC35G1):c.872T>C (p.Ile291Thr)	SLC35G1 (I274T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2555291	NM_001134658.3(SLC35G1):c.410G>A (p.Gly137Glu)	SLC35G1 (G120E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546632	NM_001134658.3(SLC35G1):c.209T>C (p.Leu70Pro)	SLC35G1 (L69P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490504	NM_001134658.3(SLC35G1):c.1072C>A (p.Arg358Ser)	SLC35G1 (R358S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471087	NM_001134658.3(SLC35G1):c.443A>T (p.Tyr148Phe)	SLC35G1 (Y148F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455361	NM_001134658.3(SLC35G1):c.625T>C (p.Ser209Pro)	SLC35G1 (S208P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2397437	NM_001134658.3(SLC35G1):c.77G>T (p.Gly26Val)	LOC130004379, SLC35G1 (G26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347820	NM_001134658.3(SLC35G1):c.132G>T (p.Arg44Ser)	LOC130004379, SLC35G1 (R44S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330235	NM_001134658.3(SLC35G1):c.265G>C (p.Val89Leu)	SLC35G1 (V88L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320271	NM_001134658.3(SLC35G1):c.875G>T (p.Gly292Val)	SLC35G1 (G291V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319393	NM_001134658.3(SLC35G1):c.973G>C (p.Ala325Pro)	SLC35G1 (A308P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292285	NM_001134658.3(SLC35G1):c.443A>G (p.Tyr148Cys)	SLC35G1 (Y148C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265834	NM_001134658.3(SLC35G1):c.1078T>C (p.Trp360Arg)	SLC35G1 (W360R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255306	NM_001134658.3(SLC35G1):c.188A>G (p.Lys63Arg)	SLC35G1 (K63R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248848	NM_001134658.3(SLC35G1):c.373G>A (p.Gly125Ser)	SLC35G1 (G108S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237161	NM_001134658.3(SLC35G1):c.44C>T (p.Pro15Leu)	LOC130004379, SLC35G1 (P15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231399	NM_001134658.3(SLC35G1):c.152C>T (p.Ser51Leu)	LOC130004379, SLC35G1 (S51L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220385	NM_001134658.3(SLC35G1):c.790G>T (p.Val264Phe)	SLC35G1 (V264F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207817	NM_001134658.3(SLC35G1):c.55C>A (p.Leu19Ile)	LOC130004379, SLC35G1 (L19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 161821	NM_001134658.3(SLC35G1):c.427G>A (p.Ala143Thr)	SLC35G1 (A142T +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 53