ClinVar for Gene (Select 23539) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163150	NM_013356.3(SLC16A8):c.947G>A (p.Arg316Gln)	SLC16A8 (R316Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163149	NM_013356.3(SLC16A8):c.68G>A (p.Gly23Asp)	SLC16A8 (G23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163148	NM_013356.3(SLC16A8):c.680T>C (p.Leu227Pro)	SLC16A8 (L227P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163147	NM_013356.3(SLC16A8):c.640G>A (p.Gly214Arg)	SLC16A8 (G214R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163146	NM_013356.3(SLC16A8):c.476C>T (p.Ala159Val)	SLC16A8 (A159V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163145	NM_013356.3(SLC16A8):c.212C>T (p.Thr71Met)	LOC130067398, SLC16A8 (T71M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163144	NM_013356.3(SLC16A8):c.157G>A (p.Gly53Ser)	SLC16A8 (G53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163143	NM_013356.3(SLC16A8):c.1490C>T (p.Pro497Leu)	SLC16A8 (P497L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163142	NM_013356.3(SLC16A8):c.1478T>C (p.Ile493Thr)	SLC16A8 (I67T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163141	NM_013356.3(SLC16A8):c.1325C>T (p.Pro442Leu)	SLC16A8 (P16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163140	NM_013356.3(SLC16A8):c.1201C>T (p.Arg401Cys)	SLC16A8 (R401C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163139	NM_013356.3(SLC16A8):c.1189C>T (p.Pro397Ser)	SLC16A8 (P397S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163138	NM_013356.3(SLC16A8):c.115G>T (p.Val39Leu)	SLC16A8 (V39L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653133	NM_013356.3(SLC16A8):c.1503C>T (p.Ala501=)	SLC16A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622891	NM_013356.3(SLC16A8):c.655G>A (p.Glu219Lys)	SLC16A8 (E219K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608754	NM_013356.3(SLC16A8):c.865G>A (p.Ala289Thr)	SLC16A8 (A289T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545971	NM_013356.3(SLC16A8):c.1177C>T (p.Leu393Phe)	SLC16A8 (L393F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541026	NM_013356.3(SLC16A8):c.884T>C (p.Val295Ala)	SLC16A8 (V295A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536260	NM_013356.3(SLC16A8):c.422G>A (p.Arg141Gln)	SLC16A8 (R141Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534574	NM_013356.3(SLC16A8):c.497A>T (p.Gln166Leu)	SLC16A8 (Q166L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527254	NM_013356.3(SLC16A8):c.701C>T (p.Pro234Leu)	SLC16A8 (P234L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512392	NM_013356.3(SLC16A8):c.163A>G (p.Ser55Gly)	SLC16A8 (S55G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2497707	NM_013356.3(SLC16A8):c.396C>G (p.Ile132Met)	SLC16A8 (I132M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2493039	NM_013356.3(SLC16A8):c.40G>A (p.Asp14Asn)	SLC16A8 (D14N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487920	NM_013356.3(SLC16A8):c.1036C>T (p.Leu346Phe)	SLC16A8 (L346F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482648	NM_013356.3(SLC16A8):c.378C>A (p.Asn126Lys)	SLC16A8 (N126K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479950	NM_013356.3(SLC16A8):c.1204C>G (p.Leu402Val)	SLC16A8 (L402V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474418	NM_013356.3(SLC16A8):c.769G>A (p.Ala257Thr)	SLC16A8 (A257T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472103	NM_013356.3(SLC16A8):c.1306C>T (p.Arg436Cys)	SLC16A8 (R10C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2408718	NM_013356.3(SLC16A8):c.1159G>C (p.Val387Leu)	SLC16A8 (V387L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2393860	NM_013356.3(SLC16A8):c.1498G>C (p.Ala500Pro)	SLC16A8 (A500P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387996	NM_013356.3(SLC16A8):c.20G>C (p.Arg7Pro)	SLC16A8 (R7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365828	NM_013356.3(SLC16A8):c.892G>C (p.Val298Leu)	SLC16A8 (V298L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337015	NM_013356.3(SLC16A8):c.1348G>A (p.Gly450Arg)	SLC16A8 (G24R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309988	NM_013356.3(SLC16A8):c.1070A>T (p.Tyr357Phe)	SLC16A8 (Y357F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304769	NM_013356.3(SLC16A8):c.994C>T (p.Leu332Phe)	SLC16A8 (L332F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297488	NM_013356.3(SLC16A8):c.371C>G (p.Ala124Gly)	SLC16A8 (A124G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294984	NM_013356.3(SLC16A8):c.857C>T (p.Thr286Ile)	SLC16A8 (T286I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287758	NM_013356.3(SLC16A8):c.1449C>A (p.Ser483Arg)	SLC16A8 (S57R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275937	NM_013356.3(SLC16A8):c.425G>A (p.Arg142Gln)	SLC16A8 (R142Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271279	NM_013356.3(SLC16A8):c.370G>C (p.Ala124Pro)	SLC16A8 (A124P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271093	NM_013356.3(SLC16A8):c.914C>A (p.Ala305Glu)	SLC16A8 (A305E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269275	NM_013356.3(SLC16A8):c.1462C>T (p.Pro488Ser)	SLC16A8 (P488S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256030	NM_013356.3(SLC16A8):c.155C>A (p.Ala52Asp)	SLC16A8 (A52D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256029	NM_013356.3(SLC16A8):c.154G>A (p.Ala52Thr)	SLC16A8 (A52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235514	NM_013356.3(SLC16A8):c.44G>A (p.Gly15Asp)	SLC16A8 (G15D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233167	NM_013356.3(SLC16A8):c.1234A>C (p.Ile412Leu)	SLC16A8 (I412L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 731861	NM_013356.3(SLC16A8):c.202C>T (p.Leu68Phe)	LOC130067398, SLC16A8 (L68F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714907	NM_013356.3(SLC16A8):c.1449_1459del (p.Ser483fs)	SLC16A8 (S483fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 712401	NM_013356.3(SLC16A8):c.1504G>A (p.Glu502Lys)	SLC16A8 (E502K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395465	GRCh37/hg19 22q13.1(chr22:38322968-38965458)	BAIAP2L2, C22orf23 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 162179	NM_013356.3(SLC16A8):c.1198+571G>A	SLC16A8	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

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Items: 77