SLC51B[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 3052251	NM_178859.4(SLC51B):c.-6del	RASL12, SLC51B	Deletion (5 prime UTR variant)	SLC51B-related disorder	GLikely benign
Select item 3029898	NM_178859.4(SLC51B):c.-4G>A	SLC51B, RASL12	Single nucleotide variant (5 prime UTR variant)	SLC51B-related disorder	GLikely benign
Select item 2876772	NM_178859.4(SLC51B):c.8A>T (p.His3Leu)	RASL12, SLC51B (H3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818506	NM_178859.4(SLC51B):c.13G>A (p.Glu5Lys)	RASL12, SLC51B (E5K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977607	NM_178859.4(SLC51B):c.13G>C (p.Glu5Gln)	RASL12, SLC51B (E5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022466	NM_178859.4(SLC51B):c.20C>T (p.Ala7Val)	RASL12, SLC51B (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064365	NM_178859.4(SLC51B):c.36C>T (p.Ala12=)	SLC51B, RASL12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870801	NM_178859.4(SLC51B):c.37G>C (p.Gly13Arg)	RASL12, SLC51B (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2614175	NM_178859.4(SLC51B):c.38G>A (p.Gly13Asp)	RASL12, SLC51B (G13D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2153457	NM_178859.4(SLC51B):c.43G>T (p.Val15Leu)	RASL12, SLC51B (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869132	NM_178859.4(SLC51B):c.46G>A (p.Val16Ile)	RASL12, SLC51B (V16I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088314	NM_178859.4(SLC51B):c.51C>T (p.Pro17=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875085	NM_178859.4(SLC51B):c.57_65del (p.Leu20_Glu22del)	RASL12, SLC51B	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2013353	NM_178859.4(SLC51B):c.64G>A (p.Glu22Lys)	RASL12, SLC51B (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785008	NM_178859.4(SLC51B):c.69G>C (p.Glu23Asp)	RASL12, SLC51B (E23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772761	NM_178859.4(SLC51B):c.71T>C (p.Met24Thr)	RASL12, SLC51B (M24T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017551	NM_178859.4(SLC51B):c.71T>G (p.Met24Arg)	RASL12, SLC51B (M24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804474	NM_178859.4(SLC51B):c.84del (p.Arg29fs)	RASL12, SLC51B (R29fs)	Deletion (frameshift variant)	Cholestasis +1 more	GLikely pathogenic
Select item 2085570	NM_178859.4(SLC51B):c.96T>C (p.Asp32=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2874575	NM_178859.4(SLC51B):c.97+12G>C	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876010	NM_178859.4(SLC51B):c.97+18G>A	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110317	NM_178859.4(SLC51B):c.98-16G>C	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2137430	NM_178859.4(SLC51B):c.98-5C>G	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2702611	NM_178859.4(SLC51B):c.98-3C>T	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2779042	NM_178859.4(SLC51B):c.105C>G (p.Pro35=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526992	NM_178859.4(SLC51B):c.118A>G (p.Ile40Val)	RASL12, SLC51B (I40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2038051	NM_178859.4(SLC51B):c.131C>A (p.Ala44Glu)	RASL12, SLC51B (A44E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103709	NM_178859.4(SLC51B):c.133G>A (p.Ala45Thr)	RASL12, SLC51B (A45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485881	NM_178859.4(SLC51B):c.134C>T (p.Ala45Val)	RASL12, SLC51B (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2899413	NM_178859.4(SLC51B):c.136G>C (p.Val46Leu)	RASL12, SLC51B (V46L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899685	NM_178859.4(SLC51B):c.138G>A (p.Val46=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418350	NM_178859.4(SLC51B):c.144C>G (p.Val48=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835562	NM_178859.4(SLC51B):c.145A>C (p.Ile49Leu)	RASL12, SLC51B (I49L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805848	NM_178859.4(SLC51B):c.153C>T (p.Ser51=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781531	NM_178859.4(SLC51B):c.162C>T (p.Leu54=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976897	NM_178859.4(SLC51B):c.167G>A (p.Gly56Glu)	RASL12, SLC51B (G56E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2884797	NM_178859.4(SLC51B):c.178C>G (p.Gln60Glu)	RASL12, SLC51B (Q60E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072471	NM_178859.4(SLC51B):c.188G>A (p.Arg63Lys)	RASL12, SLC51B (R63K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105214	NM_178859.4(SLC51B):c.188+1G>T	RASL12, SLC51B	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2729779	NM_178859.4(SLC51B):c.188+3G>A	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1973785	NM_178859.4(SLC51B):c.188+22dup	RASL12, SLC51B	Duplication (intron variant)	not provided	GBenign
Select item 2064385	NM_178859.4(SLC51B):c.189-19C>T	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782771	NM_178859.4(SLC51B):c.189-5C>G	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419637	NM_178859.4(SLC51B):c.189-3C>A	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2008757	NM_178859.4(SLC51B):c.189-3C>G	RASL12, SLC51B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2072948	NM_178859.4(SLC51B):c.199A>G (p.Met67Val)	RASL12, SLC51B (M67V)	Single nucleotide variant (missense variant)	SLC51B-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3165171	NM_178859.4(SLC51B):c.201G>A (p.Met67Ile)	RASL12, SLC51B (M67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061220	NM_178859.4(SLC51B):c.230T>C (p.Val77Ala)	RASL12, SLC51B (V77A)	Single nucleotide variant (missense variant)	SLC51B-related disorder	GUncertain significance
Select item 3165172	NM_178859.4(SLC51B):c.241G>T (p.Asp81Tyr)	RASL12, SLC51B (D81Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2748522	NM_178859.4(SLC51B):c.251A>G (p.Lys84Arg)	RASL12, SLC51B (K84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978177	NM_178859.4(SLC51B):c.258C>G (p.His86Gln)	RASL12, SLC51B (H86Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975817	NM_178859.4(SLC51B):c.272A>C (p.Asn91Thr)	RASL12, SLC51B (N91T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2871129	NM_178859.4(SLC51B):c.277del (p.Arg93fs)	RASL12, SLC51B (R93fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2607801	NM_178859.4(SLC51B):c.290T>C (p.Leu97Pro)	RASL12, SLC51B (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2129034	NM_178859.4(SLC51B):c.298A>G (p.Lys100Glu)	RASL12, SLC51B (K100E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715992	NM_178859.4(SLC51B):c.314del (p.Gln105fs)	RASL12, SLC51B (Q105fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2072926	NM_178859.4(SLC51B):c.329T>C (p.Leu110Ser)	RASL12, SLC51B (L110S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1995357	NM_178859.4(SLC51B):c.330A>G (p.Leu110=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972067	NM_178859.4(SLC51B):c.332_335del (p.Lys111fs)	RASL12, SLC51B (K111fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2802042	NM_178859.4(SLC51B):c.339A>G (p.Arg113=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126742	NM_178859.4(SLC51B):c.348G>C (p.Leu116=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783729	NM_178859.4(SLC51B):c.356T>C (p.Phe119Ser)	RASL12, SLC51B (F119S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2319958	NM_178859.4(SLC51B):c.362C>T (p.Pro121Leu)	RASL12, SLC51B (P121L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2711101	NM_178859.4(SLC51B):c.363G>A (p.Pro121=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745869	NM_178859.4(SLC51B):c.367G>A (p.Val123Ile)	RASL12, SLC51B (V123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026908	NM_178859.4(SLC51B):c.370C>T (p.Pro124Ser)	RASL12, SLC51B (P124S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469676	NM_178859.4(SLC51B):c.377C>T (p.Thr126Ile)	RASL12, SLC51B (T126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2421906	NM_178859.4(SLC51B):c.381G>A (p.Glu127=)	RASL12, SLC51B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1471542	NC_000015.9:g.(?_65255951)_(65370540_?)del	KBTBD13, MTFMT +3 more	Deletion	Nemaline myopathy 6	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980527	GRCh37/hg19 15q22.31(chr15:65221723-65365642)x1	MTFMT, SPG21 +3 more	Copy number loss	not provided	GUncertain significance
Select item 685962	GRCh37/hg19 15q22.31(chr15:65258439-65742148)x3	RNU5A-1, SLC51B +12 more	Copy number gain	not provided	GUncertain significance
Select item 685961	GRCh37/hg19 15q22.31(chr15:65258583-65742148)x3	RASL12, RNU5A-1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 84