SLC30A5[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LINC02219, LINC02229 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 2324282	NM_022902.5(SLC30A5):c.31G>A (p.Ala11Thr)	LOC129994018, SLC30A5 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778191	NM_022902.5(SLC30A5):c.206+7G>A	SLC30A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769300	NM_022902.5(SLC30A5):c.206+17dup	SLC30A5	Duplication (intron variant)	not provided	GBenign
Select item 778192	NM_022902.5(SLC30A5):c.207G>T (p.Gly69=)	SLC30A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2297300	NM_022902.5(SLC30A5):c.312T>G (p.Ile104Met)	SLC30A5 (I104M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2351763	NM_022902.5(SLC30A5):c.410G>C (p.Ser137Thr)	SLC30A5 (S137T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384867	NM_022902.5(SLC30A5):c.512T>A (p.Leu171His)	SLC30A5 (L171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340152	NM_022902.5(SLC30A5):c.577A>G (p.Thr193Ala)	SLC30A5 (T193A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164246	NM_022902.5(SLC30A5):c.619G>A (p.Val207Ile)	SLC30A5 (V207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558227	NM_022902.5(SLC30A5):c.685G>C (p.Val229Leu)	SLC30A5 (V229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164247	NM_022902.5(SLC30A5):c.688G>A (p.Asp230Asn)	SLC30A5 (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400024	NM_022902.5(SLC30A5):c.691G>A (p.Val231Ile)	SLC30A5 (V231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217725	NM_022902.5(SLC30A5):c.692T>C (p.Val231Ala)	SLC30A5 (V231A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690009	NM_022902.5(SLC30A5):c.719T>G (p.Leu240Ter)	SLC30A5 (L240*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2470568	NM_022902.5(SLC30A5):c.725A>T (p.His242Leu)	SLC30A5 (H242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296100	NM_022902.5(SLC30A5):c.745T>G (p.Leu249Val)	SLC30A5 (L249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 976212	NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs)	SLC30A5 (I278fs)	Deletion (frameshift variant)	Hydrops fetalis +4 more	GLikely pathogenic
Select item 3164248	NM_022902.5(SLC30A5):c.862G>A (p.Val288Met)	SLC30A5 (V288M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164249	NM_022902.5(SLC30A5):c.887T>C (p.Met296Thr)	SLC30A5 (M296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287249	NM_022902.5(SLC30A5):c.899A>G (p.Lys300Arg)	SLC30A5 (K300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401543	NM_022902.5(SLC30A5):c.914G>T (p.Gly305Val)	SLC30A5 (G305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524194	NM_022902.5(SLC30A5):c.1103G>C (p.Arg368Thr)	SLC30A5 (R368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164242	NM_022902.5(SLC30A5):c.1127G>A (p.Gly376Glu)	SLC30A5 (G376E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164243	NM_022902.5(SLC30A5):c.1150C>G (p.Leu384Val)	SLC30A5 (L384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321125	NM_022902.5(SLC30A5):c.1241G>A (p.Ser414Asn)	SLC30A5 (S414N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540611	NM_022902.5(SLC30A5):c.1433C>T (p.Ser478Phe)	SLC30A5 (S478F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599035	NM_022902.5(SLC30A5):c.1442A>G (p.Tyr481Cys)	SLC30A5 (Y481C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777594	NM_022902.5(SLC30A5):c.1448G>A (p.Arg483Gln)	SLC30A5 (R483Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2400458	NM_022902.5(SLC30A5):c.1822G>A (p.Val608Ile)	SLC30A5 (V608I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 988899	NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs)	SLC30A5 (H661fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy +4 more	GLikely pathogenic
Select item 3164244	NM_022902.5(SLC30A5):c.2009T>C (p.Ile670Thr)	SLC30A5 (I670T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164245	NM_022902.5(SLC30A5):c.2010T>G (p.Ile670Met)	SLC30A5 (I670M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771377	NM_022902.5(SLC30A5):c.2157A>G (p.Val719=)	SLC30A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472786	NM_022902.5(SLC30A5):c.2218A>G (p.Thr740Ala)	SLC30A5 (T740A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 2685158	GRCh37/hg19 5q13.1-13.2(chr5:67725323-68414933)x1	SLC30A5	Copy number loss	not provided	GUncertain significance
Select item 1527167	GRCh37/hg19 5q12.3-13.2(chr5:64049692-70306646)	ADAMTS6, CCDC125 +28 more	Copy number loss	not specified	GPathogenic
Select item 1340095	GRCh37/hg19 5q13.1-13.2(chr5:68203539-68641982)x3	CCDC125, CCNB1 +4 more	Copy number gain	not provided	GLikely benign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 617596	GRCh37/hg19 5q13.1-13.2(chr5:68278453-70369959)x3	CCDC125, CCNB1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 563075	GRCh37/hg19 5q12.3-13.2(chr5:65315606-68755816)x1	CD180, RAD17 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 442841	GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4	CCDC125, CCNB1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442344	GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4	ADAMTS6, CCDC125 +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 51