ClinVar for MedGen (Select 318679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065238	NM_022369.4(STRA6):c.1922T>A (p.Leu641Gln)	STRA6 (L632Q +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 3004002	NM_022369.4(STRA6):c.498G>A (p.Thr166=)	STRA6	Single nucleotide variant (synonymous variant +1 more)	Matthew-Wood syndrome	GLikely benign
Select item 2915183	NM_022369.4(STRA6):c.1841-12C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 2805726	NM_022369.4(STRA6):c.431-16T>C	STRA6	Single nucleotide variant (3 prime UTR variant +1 more)	Matthew-Wood syndrome	GBenign
Select item 2801457	NM_022369.4(STRA6):c.927+11C>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 2155002	NM_022369.4(STRA6):c.928-17C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 2086115	NM_022369.4(STRA6):c.160G>T (p.Ala54Ser)	STRA6 (A54S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2085485	NM_022369.4(STRA6):c.1035C>T (p.Ser345=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 2051601	NM_022369.4(STRA6):c.794A>T (p.His265Leu)	STRA6 (H280L +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GBenign
Select item 2041584	NM_022369.4(STRA6):c.65G>C (p.Ser22Thr)	STRA6 (S22T +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 1970873	NM_022369.4(STRA6):c.267-1G>T	STRA6	Single nucleotide variant (splice acceptor variant +1 more)	Matthew-Wood syndrome	GPathogenic
Select item 1964231	NM_022369.4(STRA6):c.1167-18C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GBenign
Select item 1679221	NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu)	STRA6 (R523L +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 1625891	NM_022369.4(STRA6):c.1418+18T>G	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 1596880	NM_022369.4(STRA6):c.1419-11C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 1593242	NM_022369.4(STRA6):c.1300+18G>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 1387638	NM_022369.4(STRA6):c.985del (p.Val329fs)	STRA6 (V344fs +4 more)	Deletion (frameshift variant)	Matthew-Wood syndrome	GPathogenic
Select item 1353718	NM_022369.4(STRA6):c.1694C>T (p.Thr565Met)	STRA6 (T565M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1334721	NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter)	STRA6 (R523* +4 more)	Single nucleotide variant (nonsense)	Matthew-Wood syndrome +1 more	GPathogenic
Select item 1299462	NM_058238.3(WNT7B):c.562G>A (p.Gly188Ser)	WNT7B (G188S)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GPathogenic
Select item 1299461	NM_058238.3(WNT7B):c.225C>G (p.Tyr75Ter)	WNT7B (Y75*)	Single nucleotide variant (nonsense)	Matthew-Wood syndrome	GPathogenic
Select item 1115288	NM_022369.4(STRA6):c.480T>G (p.Pro160=)	STRA6	Single nucleotide variant (synonymous variant +1 more)	Matthew-Wood syndrome	GLikely benign
Select item 1064531	NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro)	STRA6 (A420P +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GLikely pathogenic
Select item 1030805	NM_022369.4(STRA6):c.62dup (p.Ser22fs)	STRA6 (S59fs +3 more)	Duplication (frameshift variant)	Matthew-Wood syndrome	GPathogenic
Select item 1006289	NM_022369.4(STRA6):c.1520G>A (p.Arg507Gln)	STRA6 (R498Q +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 984925	NM_022369.4(STRA6):c.1301-6T>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GPathogenic
Select item 984924	NM_022369.4(STRA6):c.347del (p.Leu116fs)	STRA6 (L107fs +4 more)	Deletion (frameshift variant)	Matthew-Wood syndrome	GPathogenic
Select item 959422	NM_022369.4(STRA6):c.1942A>C (p.Asn648His)	STRA6 (N639H +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 956260	NM_022369.4(STRA6):c.431-2A>G	STRA6	Single nucleotide variant (splice acceptor variant +1 more)	Matthew-Wood syndrome	GLikely pathogenic
Select item 951027	NM_022369.4(STRA6):c.1418+1_1418+3del	STRA6	Microsatellite (splice donor variant)	Matthew-Wood syndrome	GLikely pathogenic
Select item 936558	NM_022369.4(STRA6):c.481del (p.Leu161fs)	STRA6 (L176fs +4 more)	Deletion (frameshift variant +1 more)	Matthew-Wood syndrome	GPathogenic
Select item 936557	NM_022369.4(STRA6):c.1871T>C (p.Met624Thr)	STRA6 (M615T +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 934914	NM_022369.4(STRA6):c.1419-9C>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 932112	NM_022369.4(STRA6):c.-15-167G>A	STRA6 (S24N)	Single nucleotide variant (intron variant +1 more)	Matthew-Wood syndrome	GUncertain significance
Select item 931117	NM_022369.4(STRA6):c.785G>T (p.Ser262Ile)	STRA6 (S301I +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 915291	NM_022369.4(STRA6):c.438G>A (p.Trp146Ter)	STRA6 (W146* +4 more)	Single nucleotide variant (nonsense +1 more)	Matthew-Wood syndrome	GPathogenic
Select item 888029	NM_022369.4(STRA6):c.1670C>T (p.Ala557Val)	STRA6 (A572V +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 888028	NM_022369.4(STRA6):c.1685-15G>A	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GBenign
Select item 888027	NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala)	STRA6 (T556A +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 888026	NM_022369.4(STRA6):c.1803C>T (p.Ala601=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 887961	NM_022369.4(STRA6):c.*582T>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886828	NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys)	STRA6 (Y194C +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886827	NM_022369.4(STRA6):c.741T>G (p.Ser247=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886826	NM_022369.4(STRA6):c.945G>A (p.Leu315=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886755	NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala)	STRA6 (S614A +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 886754	NM_022369.4(STRA6):c.*10A>C	STRA6	Single nucleotide variant (3 prime UTR variant)	STRA6-related condition +1 more	GConflicting classifications of pathogenicity
Select item 885886	NM_022369.4(STRA6):c.-83G>A	STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	Matthew-Wood syndrome	GUncertain significance
Select item 885821	NM_022369.4(STRA6):c.1300+10C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 885820	NM_022369.4(STRA6):c.1301-12C>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GBenign/Likely benign
Select item 885753	NM_022369.4(STRA6):c.*72C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 885752	NM_022369.4(STRA6):c.*105G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 885751	NM_022369.4(STRA6):c.*141G>A	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884976	NM_022369.4(STRA6):c.-28G>C	STRA6	Single nucleotide variant (5 prime UTR variant +1 more)	Matthew-Wood syndrome	GUncertain significance
Select item 884975	NM_022369.4(STRA6):c.-15-14G>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884974	NM_022369.4(STRA6):c.180A>G (p.Ser60=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884973	NM_022369.4(STRA6):c.181A>T (p.Ile61Phe)	STRA6 (I98F +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884903	NM_022369.4(STRA6):c.1341G>A (p.Thr447=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884902	NM_022369.4(STRA6):c.1377T>C (p.His459=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884901	NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp)	STRA6 (R546W +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884900	NM_022369.4(STRA6):c.1520+14T>C	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884899	NM_022369.4(STRA6):c.1565T>G (p.Val522Gly)	STRA6 (V522G +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884819	NM_022369.4(STRA6):c.*190C>T	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 884818	NM_022369.4(STRA6):c.*368G>C	STRA6	Single nucleotide variant (3 prime UTR variant)	Matthew-Wood syndrome	GUncertain significance
Select item 800268	NM_022369.4(STRA6):c.973G>T (p.Val325Leu)	STRA6 (V340L +4 more)	Single nucleotide variant (missense variant)	STRA6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 800267	NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr)	STRA6 (C117Y +3 more)	Single nucleotide variant (missense variant)	STRA6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 800191	NM_022369.4(STRA6):c.145C>T (p.Pro49Ser)	STRA6 (P64S +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GLikely benign
Select item 797984	NM_022369.4(STRA6):c.1053G>A (p.Val351=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 791404	NM_022369.4(STRA6):c.1692C>T (p.Tyr564=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 783111	NM_022369.4(STRA6):c.1668C>T (p.Ala556=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 772765	NM_022369.4(STRA6):c.902C>T (p.Thr301Ile)	STRA6 (T292I +4 more)	Single nucleotide variant (missense variant)	STRA6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 772409	NM_022369.4(STRA6):c.1026C>T (p.Ile342=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 767584	NM_022369.4(STRA6):c.826C>T (p.Arg276Cys)	STRA6 (R267C +4 more)	Single nucleotide variant (missense variant)	STRA6-related condition +1 more	GConflicting classifications of pathogenicity
Select item 767298	NM_022369.4(STRA6):c.591G>A (p.Val197=)	STRA6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 767228	NM_022369.4(STRA6):c.105G>A (p.Gln35=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GBenign
Select item 766778	NM_022369.4(STRA6):c.407-9A>T	STRA6	Single nucleotide variant (intron variant)	Matthew-Wood syndrome	GLikely benign
Select item 755885	NM_022369.4(STRA6):c.1677C>T (p.Leu559=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 741837	NM_022369.4(STRA6):c.1191A>G (p.Arg397=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 737530	NM_022369.4(STRA6):c.387C>A (p.Leu129=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome +1 more	GConflicting classifications of pathogenicity
Select item 708447	NM_022369.4(STRA6):c.1242C>T (p.Arg414=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GConflicting classifications of pathogenicity
Select item 596487	NM_022369.4(STRA6):c.1605C>A (p.Leu535=)	STRA6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 591169	NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro)	STRA6 (L166P +4 more)	Indel (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 572841	NM_022369.4(STRA6):c.1676dup (p.Asp560fs)	STRA6 (D599fs +4 more)	Duplication (frameshift variant)	Matthew-Wood syndrome	GPathogenic
Select item 497535	NM_022369.4(STRA6):c.1027G>T (p.Val343Leu)	STRA6 (V343L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 464036	NM_022369.4(STRA6):c.946G>A (p.Val316Met)	STRA6 (V316M +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GBenign
Select item 464035	NM_022369.4(STRA6):c.597+6C>T	STRA6	Single nucleotide variant (3 prime UTR variant +1 more)	Matthew-Wood syndrome +1 more	GLikely benign
Select item 464034	NM_022369.4(STRA6):c.367G>C (p.Ala123Pro)	STRA6 (A123P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 464033	NM_022369.4(STRA6):c.2001C>T (p.Pro667=)	STRA6	Single nucleotide variant (synonymous variant)	Matthew-Wood syndrome	GLikely benign
Select item 464032	NM_022369.4(STRA6):c.173C>T (p.Ser58Leu)	STRA6 (S58L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 464031	NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg)	STRA6 (L464R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 452785	NM_022369.4(STRA6):c.653T>C (p.Phe218Ser)	STRA6 (F218S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 446174	NM_022369.4(STRA6):c.113+3_113+4del	STRA6	Deletion (intron variant)	Matthew-Wood syndrome	GPathogenic
Select item 437887	NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter)	WNT7B (R98*)	Single nucleotide variant (nonsense)	Matthew-Wood syndrome +1 more	GPathogenic
Select item 317119	NM_022369.4(STRA6):c.4T>C (p.Ser2Pro)	STRA6 (S2P +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317118	NM_022369.4(STRA6):c.91G>A (p.Gly31Ser)	STRA6 (G31S +3 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome +1 more	GBenign/Likely benign
Select item 317117	NM_022369.4(STRA6):c.331C>T (p.Leu111=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 317116	NM_022369.4(STRA6):c.366C>T (p.Asp122=)	STRA6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317115	NM_022369.4(STRA6):c.386T>C (p.Leu129Pro)	STRA6 (L129P +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GUncertain significance
Select item 317114	NM_022369.4(STRA6):c.388G>A (p.Ala130Thr)	STRA6 (A130T +4 more)	Single nucleotide variant (missense variant)	Matthew-Wood syndrome	GConflicting classifications of pathogenicity
Select item 317113	NM_022369.4(STRA6):c.406+5C>T	STRA6	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 317112	NM_022369.4(STRA6):c.597+7G>A	STRA6	Single nucleotide variant (intron variant +1 more)	Matthew-Wood syndrome	GUncertain significance

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