SHH[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164032	NM_000193.4(SHH):c.*2824C>A	SHH (C157*)	Single nucleotide variant (3 prime UTR variant +2 more)	Partial agenesis of the corpus callosum	GPathogenic
Select item 586571	NM_000193.4(SHH):c.*2759G>A	SHH (G136R)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3031729	NM_000193.4(SHH):c.*2758C>T	SHH	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 3046477	NM_000193.4(SHH):c.*2741T>C	SHH (F130L)	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 3048377	NM_000193.4(SHH):c.*2737C>T	SHH	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 3053417	NM_000193.4(SHH):c.*2722G>A	SHH	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GLikely benign
Select item 1328086	NM_000193.4(SHH):c.*2721C>T	SHH (P123L)	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder +1 more	GLikely benign
Select item 1201549	NM_000193.4(SHH):c.*212T>C	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1259170	NM_000193.4(SHH):c.*112GAATAA[3]	SHH	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1213157	NM_000193.4(SHH):c.*35C>G	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1200869	NM_000193.4(SHH):c.*29A>G	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1198977	NM_000193.4(SHH):c.*25C>G	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1314439	NM_000193.4(SHH):c.*10dup	SHH	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2502791	NM_000193.4(SHH):c.*8G>T	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3053709	NM_000193.4(SHH):c.*5G>A	SHH	Single nucleotide variant (3 prime UTR variant +1 more)	SHH-related disorder	GLikely benign
Select item 1302430	NM_000193.4(SHH):c.1370del (p.Met457fs)	SHH (M457fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 2504247	NM_000193.4(SHH):c.1340T>C (p.Leu447Pro)	SHH (L447P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676094	NM_000193.4(SHH):c.1335G>A (p.Trp445Ter)	SHH (W445*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 1702788	NM_000193.4(SHH):c.1309C>T (p.Gln437Ter)	SHH (Q437*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 3254603	NM_000193.4(SHH):c.1304A>G (p.Tyr435Cys)	SHH (Y435C)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GLikely pathogenic
Select item 2582291	NM_000193.4(SHH):c.1302G>A (p.Trp434Ter)	SHH (W434*)	Single nucleotide variant (nonsense +1 more)	See cases	GPathogenic
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 1309570	NM_000193.4(SHH):c.1292G>A (p.Gly431Asp)	SHH (G431D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3061578	NM_000193.4(SHH):c.1290G>A (p.Ala430=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
Select item 374270	NM_000193.4(SHH):c.1284del (p.Thr429fs)	SHH (T429fs)	Deletion (frameshift variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 2578080	NM_000193.4(SHH):c.1282G>A (p.Ala428Thr)	SHH (A428T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 427638	NM_000193.4(SHH):c.1282del (p.Ala428fs)	SHH (A428fs)	Deletion (frameshift variant +1 more)	Acrocallosal syndrome	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 593102	NM_000193.4(SHH):c.1272G>A (p.Pro424=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	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 8888	NM_000193.4(SHH):c.1270C>G (p.Pro424Ala)	SHH (P424A)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GPathogenic
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 449796	NM_000193.4(SHH):c.1258dup (p.Ala420fs)	SHH (A420fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 810236	NM_000193.4(SHH):c.1222GGC[5] (p.Gly411dup)	SHH	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 65849	NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GPathogenic
Select item 1325068	NM_000193.4(SHH):c.1222_1223delinsT (p.Gly408fs)	SHH (G408fs)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2503325	NM_000193.4(SHH):c.1219G>A (p.Gly407Arg)	SHH (G407R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582290	NM_000193.4(SHH):c.1215_1217delinsA (p.Asp405fs)	SHH (D405fs)	Indel (frameshift variant +1 more)	See cases	GPathogenic
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)	not provided +2 more	GUncertain significance
Select item 3031737	NM_000193.4(SHH):c.1206C>T (p.Gly402=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
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 1309824	NM_000193.4(SHH):c.1195G>A (p.Gly399Arg)	SHH (G399R)	Single nucleotide variant (missense variant +1 more)	not provided	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 2254042	NM_000193.4(SHH):c.1181G>T (p.Arg394Leu)	SHH (R394L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 281757	NM_000193.4(SHH):c.1181G>A (p.Arg394His)	SHH (R394H)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3 +3 more	GConflicting classifications of pathogenicity
Select item 1709495	NM_000193.4(SHH):c.1157_1180del (p.Leu386_Ala393del)	SHH	Deletion (intron variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 1362086	NM_000193.4(SHH):c.1178C>G (p.Ala393Gly)	SHH (A393G)	Single nucleotide variant (missense variant +1 more)	not provided +5 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 976778	NM_000193.4(SHH):c.1172del (p.Ala391fs)	SHH (A391fs)	Deletion (frameshift variant +1 more)	Holoprosencephaly 3	GPathogenic
Select item 430943	NM_000193.4(SHH):c.1171G>A (p.Ala391Thr)	SHH (A391T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2662207	NM_000193.4(SHH):c.1169T>C (p.Leu390Pro)	SHH (L390P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 916490	NM_000193.4(SHH):c.1167A>T (p.Ala389=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	Schizencephaly +4 more	GUncertain significance
Select item 2504390	NM_000193.4(SHH):c.1142G>T (p.Arg381Leu)	SHH (R381L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 8889	NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)	SHH	Deletion (inframe_deletion +1 more)	Holoprosencephaly 3	GPathogenic
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 2658280	NM_000193.4(SHH):c.1132G>A (p.Ala378Thr)	SHH (A378T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3252253	NM_000193.4(SHH):c.1127C>A (p.Ala376Asp)	SHH (A376D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 523887	NM_000193.4(SHH):c.1116G>A (p.Trp372Ter)	SHH (W372*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2399269	NM_000193.4(SHH):c.1114T>C (p.Trp372Arg)	SHH (W372R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 666320	NM_000193.4(SHH):c.1102G>T (p.Glu368Ter)	SHH (E368*)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, isolated, with coloboma 5	GLikely pathogenic
Select item 196231	NM_000193.4(SHH):c.1102G>A (p.Glu368Lys)	SHH (E368K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426968	NM_000193.4(SHH):c.1101C>G (p.Ile367Met)	SHH (I367M)	Single nucleotide variant (missense variant +1 more)	not provided	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 3051037	NM_000193.4(SHH):c.1086G>C (p.Ser362=)	SHH	Single nucleotide variant (synonymous variant +1 more)	SHH-related disorder	GLikely benign
Select item 994034	NM_000193.4(SHH):c.1085C>T (p.Ser362Leu)	SHH (S362L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 2499706	NM_000193.4(SHH):c.1082C>T (p.Ala361Val)	SHH (A361V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 196230	NM_000193.4(SHH):c.1078C>T (p.Leu360=)	SHH	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 3 +3 more	GConflicting classifications of pathogenicity
Select item 2206067	NM_000193.4(SHH):c.1073G>A (p.Arg358Gln)	SHH (R358Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 391818	NM_000193.4(SHH):c.1060A>G (p.Ile354Val)	SHH (I354V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253511	NM_000193.4(SHH):c.1055G>T (p.Gly352Val)	SHH (G352V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2497869	NM_000193.4(SHH):c.1055G>A (p.Gly352Asp)	SHH (G352D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 436720	NM_000193.4(SHH):c.1030_1050dup (p.Ala344_Ala350dup)	SHH	Duplication (inframe_insertion +1 more)	not specified	GUncertain significance
Select item 976169	NM_000193.4(SHH):c.1048G>T (p.Ala350Ser)	SHH (A350S)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3	GUncertain significance
Select item 545575	NM_000193.4(SHH):c.1040C>T (p.Pro347Leu)	SHH (P347L)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 3 +1 more	GPathogenic
Select item 282694	NM_000193.4(SHH):c.1040C>G (p.Pro347Arg)	SHH (P347R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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

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