"GeneDx"[submitter] AND "SIX5"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1271737	NM_175875.5(SIX5):c.*331C>T	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1240611	NM_175875.5(SIX5):c.*306G>A	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1318318	NM_175875.5(SIX5):c.*161C>G	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1318431	NM_175875.5(SIX5):c.*105C>T	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1251781	NM_175875.5(SIX5):c.*45G>A	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1317909	NM_175875.5(SIX5):c.*32T>C	SIX5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1315723	NM_175875.5(SIX5):c.2189C>T (p.Ser730Leu)	SIX5 (S730L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 512355	NM_175875.5(SIX5):c.2173C>T (p.Leu725=)	SIX5	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GBenign/Likely benign
Select item 262913	NM_175875.5(SIX5):c.2077G>A (p.Val693Met)	SIX5 (V693M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1317653	NM_175875.5(SIX5):c.2052G>C (p.Gly684=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702683	NM_175875.5(SIX5):c.1979C>A (p.Ala660Glu)	SIX5 (A660E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1265285	NM_175875.5(SIX5):c.1978G>A (p.Ala660Thr)	SIX5 (A660T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 708639	NM_175875.5(SIX5):c.1963C>T (p.Leu655=)	SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1316224	NM_175875.5(SIX5):c.1944G>A (p.Pro648=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593389	NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu)	SIX5 (P648L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262912	NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser)	SIX5 (P635S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 732479	NM_175875.5(SIX5):c.1873G>A (p.Ala625Thr)	SIX5 (A625T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 594728	NM_175875.5(SIX5):c.1872C>T (p.Pro624=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 829852	NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu)	SIX5 (P601L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 488883	NM_175875.5(SIX5):c.1789G>T (p.Glu597Ter)	SIX5 (E597*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 508160	NM_175875.5(SIX5):c.1783G>A (p.Val595Met)	SIX5 (V595M)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1320975	NM_175875.5(SIX5):c.1666C>A (p.Leu556Met)	SIX5 (L556M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 708831	NM_175875.5(SIX5):c.1656G>A (p.Thr552=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1270820	NM_175875.5(SIX5):c.1651G>A (p.Val551Met)	SIX5 (V551M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1181906	NM_175875.5(SIX5):c.1609+63G>C	SIX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317813	NM_175875.5(SIX5):c.1609+42G>A	SIX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256759	NM_175875.5(SIX5):c.1609+30G>A	SIX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452194	NM_175875.5(SIX5):c.1582C>G (p.Leu528Val)	SIX5 (L528V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1723637	NM_175875.5(SIX5):c.1538C>T (p.Pro513Leu)	SIX5 (P513L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725997	NM_175875.5(SIX5):c.1536C>T (p.Gly512=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1316342	NM_175875.5(SIX5):c.1497C>T (p.Ala499=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515611	NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser)	SIX5 (P488S)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 379295	NM_175875.5(SIX5):c.1392G>A (p.Thr464=)	SIX5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1360087	NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser)	SIX5 (T464S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1318272	NM_175875.5(SIX5):c.1380G>A (p.Pro460=)	SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444476	NM_175875.5(SIX5):c.1366C>T (p.Leu456Phe)	SIX5 (L456F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1315682	NM_175875.5(SIX5):c.1091G>T (p.Gly364Val)	LOC107075317, SIX5 (G364V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 668435	NM_175875.5(SIX5):c.1042C>T (p.Leu348=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 732703	NM_175875.5(SIX5):c.1023C>T (p.Gly341=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 682292	NM_175875.5(SIX5):c.1014C>A (p.Leu338=)	LOC107075317, SIX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8599	NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)	LOC107075317, SIX5 (A296T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 507629	NM_175875.5(SIX5):c.811G>A (p.Asp271Asn)	LOC107075317, SIX5 (D271N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1232130	NM_175875.5(SIX5):c.804-227G>A	LOC107075317, SIX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174287	NM_175875.5(SIX5):c.803+123C>A	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 594586	NM_175875.5(SIX5):c.732G>A (p.Gln244=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1316728	NM_175875.5(SIX5):c.636C>T (p.Ser212=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 514988	NM_175875.5(SIX5):c.624C>T (p.Phe208=)	LOC107075317, SIX5 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1316705	NM_175875.5(SIX5):c.543C>A (p.Gly181=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 681903	NM_175875.5(SIX5):c.493C>T (p.Leu165=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1318075	NM_175875.5(SIX5):c.492C>T (p.Tyr164=)	DM1-AS, SIX5 +1 more	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 2 +1 more	GLikely benign
Select item 782651	NM_175875.5(SIX5):c.375G>C (p.Pro125=)	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1318014	NM_175875.5(SIX5):c.238C>T (p.Pro80Ser)	DM1-AS, LOC107075317 +2 more (P80S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1318058	NM_175875.5(SIX5):c.233C>T (p.Ser78Phe)	DM1-AS, LOC107075317 +2 more (S78F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 500193	NM_175875.5(SIX5):c.213G>T (p.Gly71=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1317730	NM_175875.5(SIX5):c.191C>T (p.Pro64Leu)	DM1-AS, LOC107075317 +2 more (P64L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1318265	NM_175875.5(SIX5):c.108G>A (p.Leu36=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1317703	NM_175875.5(SIX5):c.78A>G (p.Glu26=)	DM1-AS, LOC107075317 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 392946	NM_175875.5(SIX5):c.43G>C (p.Gly15Arg)	DM1-AS, LOC107075317 +1 more (G15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676044	NM_175875.5(SIX5):c.28G>A (p.Ala10Thr)	DM1-AS, LOC107075317 +1 more (A10T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 514165	NM_175875.5(SIX5):c.-26G>T	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 680210	NM_175875.5(SIX5):c.-35G>C	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1259311	NM_175875.5(SIX5):c.-43G>A	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 509132	NM_175875.5(SIX5):c.-45G>A	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1268635	NM_175875.5(SIX5):c.-59G>A	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1175518	NM_175875.5(SIX5):c.-76dup	DM1-AS, LOC107075317 +1 more	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 1320560	NM_175875.5(SIX5):c.-142G>T	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1285688	NM_175875.5(SIX5):c.-148C>T	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1316785	NM_175875.5(SIX5):c.-163A>G	DM1-AS, LOC107075317 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 69