SHH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 151571	GRCh38/hg38 7q36.3(chr7:155654153-156544324)x3	LINC00244, LOC106049962 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3355130	NM_000193.4(SHH):c.*2871T>G	SHH (L173*)	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GUncertain significance
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 3344217	NM_000193.4(SHH):c.*2745C>T	SHH (S131L)	Single nucleotide variant (3 prime UTR variant +2 more)	SHH-related disorder	GUncertain significance
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)	not provided	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)	Inborn genetic diseases +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)	Holoprosencephaly 3 +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 (missense 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 (synonymous 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	GLikely pathogenic
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 3341857	NM_000193.4(SHH):c.1224C>G (p.Gly408=)	SHH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 (missense 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 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

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