6729[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 1231936	NM_003136.4(SRP54):c.-33-99T>A	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502671	NM_003136.4(SRP54):c.5T>G (p.Val2Gly)	SRP54 (V2G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1409412	NM_003136.4(SRP54):c.21A>C (p.Gly7=)	SRP54	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1443014	NM_003136.4(SRP54):c.33A>G (p.Thr11=)	SRP54	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1911926	NM_003136.4(SRP54):c.43C>T (p.Arg15Cys)	SRP54 (R15C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1427757	NM_003136.4(SRP54):c.47C>T (p.Ser16Leu)	SRP54 (S16L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1168011	NM_003136.4(SRP54):c.48G>A (p.Ser16=)	SRP54	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1560422	NM_003136.4(SRP54):c.49T>C (p.Leu17=)	SRP54	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1540169	NM_003136.4(SRP54):c.78+9A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644386	NM_003136.4(SRP54):c.78+11T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628881	NM_003136.4(SRP54):c.78+12A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790488	NM_003136.4(SRP54):c.78+13T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294954	NM_003136.4(SRP54):c.79-132C>T	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2027511	NM_003136.4(SRP54):c.79-17del	SRP54	Deletion (intron variant)	not provided	GLikely benign
Select item 2974840	NM_003136.4(SRP54):c.79-16A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529547	NM_003136.4(SRP54):c.79-16A>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986049	NM_003136.4(SRP54):c.79-9T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984379	NM_003136.4(SRP54):c.90T>C (p.Ala30=)	SRP54	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872799	NM_003136.4(SRP54):c.90T>G (p.Ala30=)	SRP54	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662152	NM_003136.4(SRP54):c.93G>C (p.Met31Ile)	SRP54 (M31I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1717926	NM_003136.4(SRP54):c.94C>G (p.Leu32Val)	SRP54 (L32V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121437	NM_003136.4(SRP54):c.103G>A (p.Val35Ile)	SRP54 (V35I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1586928	NM_003136.4(SRP54):c.111C>T (p.Thr37=)	SRP54	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2014872	NM_003136.4(SRP54):c.164A>G (p.Asn55Ser)	SRP54 (N55S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1566221	NM_003136.4(SRP54):c.170+10del	SRP54	Deletion (intron variant)	not provided	GLikely benign
Select item 1642545	NM_003136.4(SRP54):c.170+14A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950646	NM_003136.4(SRP54):c.170+19G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2760691	NM_003136.4(SRP54):c.170+20T>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647299	NM_003136.4(SRP54):c.170+20T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232103	NM_003136.4(SRP54):c.170+38T>A	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271254	NM_003136.4(SRP54):c.171-151G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252239	NM_003136.4(SRP54):c.171-123T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250680	NM_003136.4(SRP54):c.171-93G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2841331	NM_003136.4(SRP54):c.171-4A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303399	NM_003136.4(SRP54):c.223A>G (p.Ile75Val)	SRP54 (I26V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568250	NM_003136.4(SRP54):c.228G>A (p.Gln76=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960750	NM_003136.4(SRP54):c.255+4A>C	SRP54	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2130837	NM_003136.4(SRP54):c.255+7G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916810	NM_003136.4(SRP54):c.255+13G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096215	NM_003136.4(SRP54):c.255+19T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284152	NM_003136.4(SRP54):c.255+170_255+172dup	SRP54	Duplication (intron variant)	not provided	GBenign
Select item 1272806	NM_003136.4(SRP54):c.255+172dup	SRP54	Duplication (intron variant)	not provided	GBenign
Select item 1174219	NM_003136.4(SRP54):c.255+189C>G	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2718656	NM_003136.4(SRP54):c.256-20_256-10del	SRP54	Deletion (intron variant)	not provided	GLikely benign
Select item 2172496	NM_003136.4(SRP54):c.270A>G (p.Gly90=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521388	NM_003136.4(SRP54):c.277G>C (p.Ala93Pro)	SRP54 (A44P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973043	NM_003136.4(SRP54):c.283A>G (p.Thr95Ala)	SRP54 (T95A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359222	NM_003136.4(SRP54):c.290C>T (p.Thr97Ile)	SRP54 (T48I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836423	NM_003136.4(SRP54):c.292A>G (p.Lys98Glu)	SRP54 (K98E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337946	NM_003136.4(SRP54):c.298A>G (p.Lys100Glu)	SRP54 (K100E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2712049	NM_003136.4(SRP54):c.324A>G (p.Gly108=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026668	NM_003136.4(SRP54):c.325T>C (p.Leu109=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1353989	NM_003136.4(SRP54):c.330A>G (p.Gln110=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985721	NM_003136.4(SRP54):c.331G>A (p.Gly111Arg)	SRP54 (G111R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1645960	NM_003136.4(SRP54):c.333G>A (p.Gly111=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 810688	NM_003136.4(SRP54):c.337G>C (p.Gly113Arg)	SRP54 (G113R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1587135	NM_003136.4(SRP54):c.339T>G (p.Gly113=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 430852	NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)	SRP54 (T117del +1 more)	Microsatellite (inframe_deletion)	Neutropenia, severe congenital, 8, autosomal dominant +1 more	GPathogenic/Likely pathogenic
Select item 430851	NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)	SRP54 (T115A +1 more)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1 +1 more	GPathogenic
Select item 1648006	NM_003136.4(SRP54):c.351A>G (p.Thr117=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960125	NM_003136.4(SRP54):c.360+14_360+15del	SRP54	Deletion (intron variant)	not provided	GLikely benign
Select item 1289373	NM_003136.4(SRP54):c.360+80G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263446	NM_003136.4(SRP54):c.361-48G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1542179	NM_003136.4(SRP54):c.361-19T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977208	NM_003136.4(SRP54):c.361-12T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1994629	NM_003136.4(SRP54):c.363A>G (p.Leu121=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1315173	NM_003136.4(SRP54):c.373T>C (p.Tyr125His)	SRP54 (Y125H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924310	NM_003136.4(SRP54):c.374A>T (p.Tyr125Phe)	SRP54 (Y76F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1455477	NM_003136.4(SRP54):c.375C>T (p.Tyr125=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877453	NM_003136.4(SRP54):c.385G>A (p.Gly129Ser)	SRP54 (G80S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766018	NM_003136.4(SRP54):c.427+14A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165461	NM_003136.4(SRP54):c.428-15C>T	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1159387	NM_003136.4(SRP54):c.429G>A (p.Gly143=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466848	NM_003136.4(SRP54):c.431C>A (p.Ala144Asp)	SRP54 (A95D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1646415	NM_003136.4(SRP54):c.444A>G (p.Leu148=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757354	NM_003136.4(SRP54):c.453T>G (p.Asn151Lys)	SRP54 (N102K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011705	NM_003136.4(SRP54):c.459C>T (p.Thr153=)	SRP54	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1364157	NM_003136.4(SRP54):c.485+5G>T	SRP54	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2130465	NM_003136.4(SRP54):c.485+10T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009062	NM_003136.4(SRP54):c.485+11G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938568	NM_003136.4(SRP54):c.485+17T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224169	NM_003136.4(SRP54):c.485+73dup	SRP54	Duplication (intron variant)	not provided	GBenign
Select item 1242713	NM_003136.4(SRP54):c.486-146T>G	SRP54	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1667664	NM_003136.4(SRP54):c.486-19A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020710	NM_003136.4(SRP54):c.486-17T>C	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997164	NM_003136.4(SRP54):c.486-13C>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180948	NM_003136.4(SRP54):c.486-9G>A	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948400	NM_003136.4(SRP54):c.486-4A>G	SRP54	Single nucleotide variant (intron variant)	not provided	GLikely benign

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