"Invitae"[submitter] AND "SHH"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 292

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3011936	NM_000193.4(SHH):c.1365G>A (p.Leu455=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2739642	NM_000193.4(SHH):c.1351G>A (p.Ala451Thr)	SHH (A451T)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2854749	NM_000193.4(SHH):c.1334G>A (p.Trp445Ter)	SHH (W445*)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1398971	NM_000193.4(SHH):c.1331C>T (p.Thr444Ile)	SHH (T444I)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 3021110	NM_000193.4(SHH):c.1322A>G (p.Gln441Arg)	SHH (Q441R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 545579	NM_000193.4(SHH):c.1307C>A (p.Ser436Ter)	SHH (S436*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 959645	NM_000193.4(SHH):c.1296C>G (p.Ile432Met)	SHH (I432M)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1410816	NM_000193.4(SHH):c.1279G>A (p.Gly427Arg)	SHH (G427R)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3 +1 more	GUncertain significance
Select item 2183275	NM_000193.4(SHH):c.1271C>T (p.Pro424Leu)	SHH (P424L)	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2190616	NM_000193.4(SHH):c.1266C>T (p.Asp422=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2892612	NM_000193.4(SHH):c.1263C>T (p.Ala421=)	SHH	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 1381826	NM_000193.4(SHH):c.1210_1233del (p.Gly404_Gly411del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1910988	NM_000193.4(SHH):c.1217G>A (p.Arg406His)	SHH (R406H)	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2063176	NM_000193.4(SHH):c.1201_1215dup (p.Asp405_Arg406insSerGlyGlyGlyAsp)	SHH	Duplication (inframe_insertion +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2076358	NM_000193.4(SHH):c.1211G>A (p.Gly404Glu)	SHH (G404E)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1303977	NM_000193.4(SHH):c.1210G>A (p.Gly404Arg)	SHH (G404R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1407269	NM_000193.4(SHH):c.1189_1200dup (p.Arg397_Asp400dup)	SHH	Duplication (inframe_insertion +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1353086	NM_000193.4(SHH):c.1199A>T (p.Asp400Val)	SHH (D400V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1401851	NM_000193.4(SHH):c.1196G>A (p.Gly399Glu)	SHH (G399E)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2093626	NM_000193.4(SHH):c.1188C>T (p.Asp396=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 281757	NM_000193.4(SHH):c.1181G>A (p.Arg394His)	SHH (R394H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1362086	NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)	SHH (A393G)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3 +4 more	GUncertain significance
Select item 1540625	NM_000193.4(SHH):c.1176C>T (p.Pro392=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2741918	NM_000193.4(SHH):c.1164T>C (p.Ala388=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GBenign
Select item 2913996	NM_000193.4(SHH):c.1155G>A (p.Ala385=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 713703	NM_000193.4(SHH):c.1149G>T (p.Ala383=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 8886	NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)	SHH (A383T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1536820	NM_000193.4(SHH):c.1134G>A (p.Ala378=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 1352129	NM_000193.4(SHH):c.1120C>T (p.His374Tyr)	SHH (H374Y)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1084119	NM_000193.4(SHH):c.1095G>T (p.Ala365=)	SHH	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2835904	NM_000193.4(SHH):c.1094C>T (p.Ala365Val)	SHH (A365V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2189168	NM_000193.4(SHH):c.1083C>G (p.Ala361=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 196230	NM_000193.4(SHH):c.1078C>T (p.Leu360=)	SHH	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1416442	NM_000193.4(SHH):c.1037C>T (p.Ala346Val)	SHH (A346V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 748129	NM_000193.4(SHH):c.1029C>G (p.Gly343=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 372894	NM_000193.4(SHH):c.1028G>A (p.Gly343Asp)	SHH (G343D)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2715048	NM_000193.4(SHH):c.1025C>T (p.Ala342Val)	SHH (A342V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2041598	NM_000193.4(SHH):c.1023C>T (p.Ala341=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2013685	NM_000193.4(SHH):c.1013G>T (p.Ser338Ile)	SHH (S338I)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2707252	NM_000193.4(SHH):c.1012A>T (p.Ser338Cys)	SHH (S338C)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1361460	NM_000193.4(SHH):c.998A>C (p.His333Pro)	SHH (H333P)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 740924	NM_000193.4(SHH):c.966C>T (p.Asp322=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 464840	NM_000193.4(SHH):c.964G>A (p.Asp322Asn)	SHH (D322N)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 1489481	NM_000193.4(SHH):c.961C>A (p.Arg321Ser)	SHH (R321S)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2039635	NM_000193.4(SHH):c.957C>T (p.Ala319=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2786372	NM_000193.4(SHH):c.952G>A (p.Val318Met)	SHH (V318M)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2123430	NM_000193.4(SHH):c.923G>C (p.Arg308Pro)	SHH (R308P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1018099	NM_000193.4(SHH):c.916G>A (p.Ala306Thr)	SHH (A306T)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 508829	NM_000193.4(SHH):c.909G>A (p.Ala303=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +1 more	GLikely benign
Select item 2803380	NM_000193.4(SHH):c.908C>T (p.Ala303Val)	SHH (A303V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2880605	NM_000193.4(SHH):c.905G>A (p.Arg302Gln)	SHH (R302Q)	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 196228	NM_000193.4(SHH):c.897G>C (p.Leu299=)	SHH	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 1616311	NM_000193.4(SHH):c.888G>A (p.Gly296=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 65912	NM_000193.4(SHH):c.885C>T (p.Ser295=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +1 more	GLikely benign
Select item 1897453	NM_000193.4(SHH):c.882T>C (p.Pro294=)	SHH	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 762714	NM_000193.4(SHH):c.879G>A (p.Pro293=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 65911	NM_000193.4(SHH):c.876G>A (p.Gly292=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 757344	NM_000193.4(SHH):c.873G>C (p.Ser291=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 464839	NM_000193.4(SHH):c.851_873del (p.Glu284fs)	SHH (E284fs)	Deletion (intron variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 8887	NM_000193.4(SHH):c.869G>A (p.Gly290Asp)	SHH (G290D)	Single nucleotide variant (missense variant +1 more)	Schizencephaly +6 more	GBenign/Likely benign
Select item 744542	NM_000193.4(SHH):c.861G>T (p.Ala287=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 720122	NM_000193.4(SHH):c.861G>A (p.Ala287=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2096891	NM_000193.4(SHH):c.858G>C (p.Glu286Asp)	SHH (E286D)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1355665	NM_000193.4(SHH):c.853C>G (p.Pro285Ala)	SHH (P285A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 8885	NM_000193.4(SHH):c.850G>T (p.Glu284Ter)	SHH (E284*)	Single nucleotide variant (nonsense +1 more)	Holoprosencephaly 3	GPathogenic
Select item 2779817	NM_000193.4(SHH):c.847G>T (p.Gly283Trp)	SHH (G283W)	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1540045	NM_000193.4(SHH):c.834C>T (p.Asn278=)	SHH	Single nucleotide variant (intron variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2735113	NM_000193.4(SHH):c.824C>A (p.Ala275Glu)	SHH (A275E)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2902943	NM_000193.4(SHH):c.780G>A (p.Pro260=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related condition +1 more	GBenign/Likely benign
Select item 1046306	NM_000193.4(SHH):c.775G>A (p.Glu259Lys)	SHH (E259K)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2849865	NM_000193.4(SHH):c.770C>T (p.Thr257Met)	SHH (T257M)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1488729	NM_000193.4(SHH):c.766G>C (p.Glu256Gln)	SHH (E256Q)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 734457	NM_000193.4(SHH):c.765C>T (p.Ile255=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 787852	NM_000193.4(SHH):c.756C>T (p.Phe252=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related condition +2 more	GLikely benign
Select item 595658	NM_000193.4(SHH):c.750G>A (p.Lys250=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1022195	NM_000193.4(SHH):c.741C>T (p.Gly247=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 2817314	NM_000193.4(SHH):c.719C>G (p.Thr240Ser)	SHH (T240S)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1651368	NM_000193.4(SHH):c.702C>G (p.Leu234=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2735114	NM_000193.4(SHH):c.694C>G (p.Arg232Gly)	SHH (R232G)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 8883	NM_000193.4(SHH):c.676G>A (p.Ala226Thr)	SHH (A226T)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +2 more	GConflicting classifications of pathogenicity
Select item 464838	NM_000193.4(SHH):c.643_645del (p.Val215del)	SHH (V215del)	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1160281	NM_000193.4(SHH):c.633C>A (p.Gly211=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2177422	NM_000193.4(SHH):c.630C>A (p.Gly210=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 65884	NM_000193.4(SHH):c.630C>T (p.Gly210=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1464136	NM_000193.4(SHH):c.629G>T (p.Gly210Val)	SHH (G210V)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1966296	NM_000193.4(SHH):c.624G>A (p.Glu208=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 1416135	NM_000193.4(SHH):c.615G>A (p.Val205=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2177423	NM_000193.4(SHH):c.612G>A (p.Thr204=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 1722027	NM_000193.4(SHH):c.607G>T (p.Ala203Ser)	SHH (A203S)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1476118	NM_000193.4(SHH):c.605C>T (p.Ser202Leu)	SHH (S202L)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1499009	NM_000193.4(SHH):c.596_604del (p.Phe199_Gly201del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 1580499	NM_000193.4(SHH):c.600G>A (p.Pro200=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 1673533	NM_000193.4(SHH):c.597C>T (p.Phe199=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3	GLikely benign
Select item 2886140	NM_000193.4(SHH):c.585G>T (p.Ser195=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related condition +1 more	GLikely benign
Select item 2759890	NM_000193.4(SHH):c.580A>C (p.Lys194Gln)	SHH (K194Q)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 65877	NM_000193.4(SHH):c.570G>A (p.Ser190=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1425498	NM_000193.4(SHH):c.563-5C>G	SHH	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 749953	NM_000193.4(SHH):c.563-5C>T	SHH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082522	NM_000193.4(SHH):c.563-10T>C	SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GLikely benign
Select item 1665524	NM_000193.4(SHH):c.562+16C>A	SHH	Single nucleotide variant (intron variant)	Holoprosencephaly 3	GBenign

<< First< Prev

Page of 3