ClinVar for Gene (Select 8501) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338459	GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3	APLNR, BTBD18 +20 more	Copy number gain	Pontocerebellar hypoplasia type 10	GLikely pathogenic
Select item 3319816	NM_003627.6(SLC43A1):c.449C>A (p.Thr150Lys)	SLC43A1 (T150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319815	NM_003627.6(SLC43A1):c.772G>T (p.Gly258Cys)	LOC126861214, SLC43A1 (G258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319814	NM_003627.6(SLC43A1):c.1146G>T (p.Lys382Asn)	SLC43A1 (K382N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319813	NM_003627.6(SLC43A1):c.1291G>T (p.Val431Leu)	SLC43A1 (V431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319812	NM_003627.6(SLC43A1):c.189G>T (p.Gln63His)	SLC43A1 (Q63H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319811	NM_003627.6(SLC43A1):c.200C>G (p.Pro67Arg)	SLC43A1 (P67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164791	NM_003627.6(SLC43A1):c.886C>G (p.Arg296Gly)	SLC43A1 (R296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164790	NM_003627.6(SLC43A1):c.680A>G (p.Glu227Gly)	SLC43A1 (E227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164789	NM_003627.6(SLC43A1):c.50G>C (p.Cys17Ser)	SLC43A1 (C17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164788	NM_003627.6(SLC43A1):c.398C>T (p.Pro133Leu)	SLC43A1 (P133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164787	NM_003627.6(SLC43A1):c.210C>G (p.Asp70Glu)	SLC43A1 (D70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164786	NM_003627.6(SLC43A1):c.1675G>A (p.Ala559Thr)	SLC43A1 (A559T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164785	NM_003627.6(SLC43A1):c.1552C>G (p.Leu518Val)	SLC43A1 (L518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164784	NM_003627.6(SLC43A1):c.1226G>A (p.Arg409His)	SLC43A1 (R409H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164783	NM_003627.6(SLC43A1):c.119T>A (p.Leu40Gln)	SLC43A1 (L40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2672466	NM_003627.6(SLC43A1):c.567C>T (p.Tyr189=)	SLC43A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622664	NM_003627.6(SLC43A1):c.905C>G (p.Pro302Arg)	SLC43A1 (P302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618406	NM_003627.6(SLC43A1):c.149G>A (p.Cys50Tyr)	SLC43A1 (C50Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614174	NM_003627.6(SLC43A1):c.1498G>A (p.Ala500Thr)	SLC43A1 (A500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588994	NM_003627.6(SLC43A1):c.877G>C (p.Val293Leu)	SLC43A1 (V293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568515	NM_003627.6(SLC43A1):c.1606C>T (p.Arg536Trp)	SLC43A1 (R536W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542722	NM_003627.6(SLC43A1):c.1135T>G (p.Trp379Gly)	SLC43A1 (W379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526789	NM_003627.6(SLC43A1):c.494C>T (p.Ser165Phe)	SLC43A1 (S165F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518913	NM_003627.6(SLC43A1):c.298C>T (p.Arg100Cys)	SLC43A1 (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513841	NM_003627.6(SLC43A1):c.490C>T (p.Arg164Cys)	SLC43A1 (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513005	NM_003627.6(SLC43A1):c.1199G>A (p.Gly400Glu)	SLC43A1 (G400E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512699	NM_003627.6(SLC43A1):c.511A>G (p.Met171Val)	SLC43A1 (M171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482129	NM_003627.6(SLC43A1):c.925C>T (p.Leu309Phe)	SLC43A1 (L309F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455885	NM_003627.6(SLC43A1):c.817G>A (p.Asp273Asn)	LOC126861214, SLC43A1 (D273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409826	NM_003627.6(SLC43A1):c.1485G>T (p.Gln495His)	SLC43A1 (Q495H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408554	NM_003627.6(SLC43A1):c.655A>G (p.Ile219Val)	SLC43A1 (I219V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404884	NM_003627.6(SLC43A1):c.256G>A (p.Val86Met)	SLC43A1 (V86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404383	NM_003627.6(SLC43A1):c.10A>C (p.Thr4Pro)	SLC43A1 (T4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375436	NM_003627.6(SLC43A1):c.844C>T (p.Arg282Trp)	LOC126861214, SLC43A1 (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360448	NM_003627.6(SLC43A1):c.44T>A (p.Met15Lys)	SLC43A1 (M15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351196	NM_003627.6(SLC43A1):c.11C>A (p.Thr4Lys)	SLC43A1 (T4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341395	NM_003627.6(SLC43A1):c.1139G>A (p.Arg380Gln)	SLC43A1 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333496	NM_003627.6(SLC43A1):c.1433C>T (p.Thr478Met)	SLC43A1 (T478M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317511	NM_003627.6(SLC43A1):c.487C>G (p.Leu163Val)	SLC43A1 (L163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311828	NM_003627.6(SLC43A1):c.1643C>T (p.Pro548Leu)	SLC43A1 (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308975	NM_003627.6(SLC43A1):c.11C>T (p.Thr4Met)	SLC43A1 (T4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273387	NM_003627.6(SLC43A1):c.319C>T (p.Arg107Trp)	SLC43A1 (R107W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249557	NM_003627.6(SLC43A1):c.811G>A (p.Gly271Ser)	LOC126861214, SLC43A1 (G271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244488	NM_003627.6(SLC43A1):c.1400A>G (p.Tyr467Cys)	SLC43A1 (Y467C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221895	NM_003627.6(SLC43A1):c.28C>T (p.Arg10Trp)	SLC43A1 (R10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206029	NM_003627.6(SLC43A1):c.1456A>G (p.Ile486Val)	SLC43A1 (I486V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808253	GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3	APLNR, LRRC55 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1341252	GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3	CLP1, MIR130A +14 more	Copy number gain	not provided	GUncertain significance
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1076333	NC_000011.9:g.(?_57235082)_(57467503_?)del	CLP1, MIR130A +8 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 789799	NM_003627.6(SLC43A1):c.356C>T (p.Thr119Ile)	SLC43A1 (T119I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786192	NM_003627.6(SLC43A1):c.1159G>A (p.Ala387Thr)	SLC43A1 (A387T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780973	NM_003627.6(SLC43A1):c.543G>A (p.Thr181=)	SLC43A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728328	NM_003627.6(SLC43A1):c.1014G>C (p.Glu338Asp)	SLC43A1 (E338D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 709998	NM_003627.6(SLC43A1):c.118C>A (p.Leu40Met)	SLC43A1 (L40M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 152667	GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3	APLNR, LINC02735 +86 more	Copy number gain	See cases	GUncertain significance
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	LOC130005708, LOC130005709 +48 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 69