14471[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 5111	NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	SGSH, SLC26A11 (S66W)	Single nucleotide variant (missense variant +1 more)	SGSH-related disorder +4 more	GPathogenic
Select item 670066	NM_001166347.2(SLC26A11):c.-252C>T	LOC130061900, SGSH +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1256964	NM_001166347.2(SLC26A11):c.-214+14C>T	LOC130061900, SGSH +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209411	NM_001166347.2(SLC26A11):c.-214+52C>G	LOC130061900, SGSH +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230382	NM_001166347.2(SLC26A11):c.-213-202A>G	SGSH, SLC26A11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281991	NM_001166347.2(SLC26A11):c.-213-193_-213-190del	SGSH, SLC26A11	Deletion (intron variant)	not provided	GBenign
Select item 1232327	NM_001166347.2(SLC26A11):c.-213-187_-213-185del	SGSH, SLC26A11	Deletion (intron variant)	not provided	GBenign
Select item 3163839	NM_001166347.2(SLC26A11):c.8C>T (p.Ser3Phe)	SLC26A11 (S3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384594	NM_001166347.2(SLC26A11):c.83C>A (p.Ala28Glu)	SLC26A11 (A28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340238	NM_001166347.2(SLC26A11):c.131C>T (p.Ser44Phe)	SLC26A11 (S44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163832	NM_001166347.2(SLC26A11):c.230C>T (p.Pro77Leu)	SLC26A11 (P77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163833	NM_001166347.2(SLC26A11):c.311C>G (p.Pro104Arg)	SLC26A11 (P104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530802	NM_001166347.2(SLC26A11):c.353A>C (p.His118Pro)	SLC26A11 (H118P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457533	NM_001166347.2(SLC26A11):c.361G>A (p.Ala121Thr)	SLC26A11 (A121T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309324	NM_001166347.2(SLC26A11):c.391G>A (p.Gly131Ser)	SLC26A11 (G131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407553	NM_001166347.2(SLC26A11):c.487G>A (p.Val163Ile)	SLC26A11 (V163I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163834	NM_001166347.2(SLC26A11):c.493A>G (p.Ile165Val)	SLC26A11 (I165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216264	NM_001166347.2(SLC26A11):c.495C>G (p.Ile165Met)	SLC26A11 (I165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408646	NM_001166347.2(SLC26A11):c.545C>T (p.Pro182Leu)	SLC26A11 (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491235	NM_001166347.2(SLC26A11):c.569C>A (p.Thr190Asn)	SLC26A11 (T190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607970	NM_001166347.2(SLC26A11):c.588G>T (p.Glu196Asp)	SLC26A11 (E196D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319288	NM_001166347.2(SLC26A11):c.607G>A (p.Val203Ile)	SLC26A11 (V203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474285	NM_001166347.2(SLC26A11):c.631C>G (p.Leu211Val)	SLC26A11 (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163835	NM_001166347.2(SLC26A11):c.740G>A (p.Arg247His)	SLC26A11 (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482436	NM_001166347.2(SLC26A11):c.772G>T (p.Val258Phe)	SLC26A11 (V258F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2588020	NM_001166347.2(SLC26A11):c.787G>A (p.Glu263Lys)	SLC26A11 (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602629	NM_001166347.2(SLC26A11):c.815T>C (p.Leu272Pro)	SLC26A11 (L272P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163836	NM_001166347.2(SLC26A11):c.835G>T (p.Gly279Trp)	SLC26A11 (G279W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163837	NM_001166347.2(SLC26A11):c.847G>A (p.Val283Ile)	SLC26A11 (V283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163838	NM_001166347.2(SLC26A11):c.853A>G (p.Ile285Val)	SLC26A11 (I285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455267	NM_001166347.2(SLC26A11):c.875C>G (p.Thr292Arg)	SLC26A11 (T292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648401	NM_001166347.2(SLC26A11):c.924C>T (p.Ala308=)	SLC26A11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543688	NM_001166347.2(SLC26A11):c.925G>A (p.Gly309Arg)	SLC26A11 (G309R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319286	NM_001166347.2(SLC26A11):c.940C>A (p.Pro314Thr)	SLC26A11 (P314T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320547	NM_001166347.2(SLC26A11):c.965T>C (p.Ile322Thr)	SLC26A11 (I322T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319291	NM_001166347.2(SLC26A11):c.1004G>A (p.Arg335His)	SLC26A11 (R335H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470874	NM_001166347.2(SLC26A11):c.1054G>A (p.Gly352Ser)	SLC26A11 (G352S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600013	NM_001166347.2(SLC26A11):c.1133C>T (p.Pro378Leu)	SLC26A11 (P378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319293	NM_001166347.2(SLC26A11):c.1136C>T (p.Ala379Val)	SLC26A11 (A379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163828	NM_001166347.2(SLC26A11):c.1192C>A (p.Leu398Met)	SLC26A11 (L398M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383251	NM_001166347.2(SLC26A11):c.1228G>A (p.Val410Ile)	SLC26A11 (V410I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305160	NM_001166347.2(SLC26A11):c.1231A>G (p.Ile411Val)	SLC26A11 (I411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588279	NM_001166347.2(SLC26A11):c.1258G>A (p.Asp420Asn)	SLC26A11 (D420N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471954	NM_001166347.2(SLC26A11):c.1318G>A (p.Val440Met)	SLC26A11 (V440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163829	NM_001166347.2(SLC26A11):c.1324T>A (p.Phe442Ile)	SLC26A11 (F442I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319290	NM_001166347.2(SLC26A11):c.1376T>C (p.Val459Ala)	SLC26A11 (V459A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495335	NM_001166347.2(SLC26A11):c.1382T>G (p.Leu461Arg)	SLC26A11 (L461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319289	NM_001166347.2(SLC26A11):c.1420A>C (p.Lys474Gln)	SLC26A11 (K474Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258155	NM_001166347.2(SLC26A11):c.1459A>G (p.Ser487Gly)	SLC26A11 (S487G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319292	NM_001166347.2(SLC26A11):c.1493G>A (p.Arg498Gln)	SLC26A11 (R498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163830	NM_001166347.2(SLC26A11):c.1495G>A (p.Glu499Lys)	SLC26A11 (E499K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336656	NM_001166347.2(SLC26A11):c.1597G>A (p.Gly533Ser)	SLC26A11 (G533S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224167	NM_001166347.2(SLC26A11):c.1633G>A (p.Ala545Thr)	SLC26A11 (A545T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163831	NM_001166347.2(SLC26A11):c.1672G>C (p.Val558Leu)	SLC26A11 (V558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Psoriasis 2 +1 more	GUncertain significance
Select item 2422574	NC_000017.10:g.(?_78109289)_(78272338_?)dup	CARD14, EIF4A3 +3 more	Duplication	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2422571	NC_000017.10:g.(?_78187951)_(78247223_?)dup	RNF213, SGSH +1 more	Duplication	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526588	GRCh37/hg19 17q25.3(chr17:77641336-79465235)	AATK, BAHCC1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687907	GRCh37/hg19 17q25.3(chr17:78226641-78316179)x3	RNF213, SLC26A11	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442849	GRCh37/hg19 17q25.3(chr17:78005894-78686171)x3	CARD14, CCDC40 +9 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395515	GRCh37/hg19 17q25.3(chr17:77679924-78559726)x3	CARD14, CBX2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 394861	GRCh37/hg19 17q25.3(chr17:78226955-78324063)x3	RNF213, SLC26A11	Copy number gain	See cases	GUncertain significance
Select item 253980	GRCh37/hg19 17q25.3(chr17:78041640-78227014)x3	CARD14, CCDC40 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 79