ClinVar for Gene (Select 3090) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320937	NM_017575.5(SMG6):c.4132G>A (p.Glu1378Lys)	HIC1, SMG6 (E289K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284262	NM_006497.4(HIC1):c.913G>A (p.Gly305Arg)	HIC1, LOC130059914 (G324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284261	NM_006497.4(HIC1):c.932G>A (p.Arg311His)	HIC1, LOC130059914 (R311H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284260	NM_006497.4(HIC1):c.503C>A (p.Ala168Asp)	HIC1, LOC130059913 (A187D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284259	NM_006497.4(HIC1):c.469C>T (p.Arg157Trp)	HIC1, LOC130059913 (R157W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284258	NM_006497.4(HIC1):c.313C>T (p.Pro105Ser)	HIC1, LOC130059912 (P124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284257	NM_006497.4(HIC1):c.929A>G (p.Tyr310Cys)	HIC1, LOC130059914 (Y310C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284256	NM_006497.4(HIC1):c.691C>T (p.Pro231Ser)	HIC1 (P231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243118	NC_000017.10:g.(?_1648982)_(2583634_?)del	DPH1, HIC1 +15 more	Deletion	not provided	GPathogenic
Select item 3166523	NM_017575.5(SMG6):c.4241C>T (p.Thr1414Met)	HIC1, SMG6 (T325M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166522	NM_017575.5(SMG6):c.4231G>C (p.Ala1411Pro)	HIC1, SMG6 (A503P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166521	NM_017575.5(SMG6):c.4220G>A (p.Arg1407Gln)	HIC1, SMG6 (R1407Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105780	NM_006497.4(HIC1):c.866G>T (p.Arg289Leu)	HIC1, LOC130059914 (R308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105779	NM_006497.4(HIC1):c.805T>C (p.Ser269Pro)	HIC1, LOC130059914 (S269P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3105778	NM_006497.4(HIC1):c.799C>G (p.Leu267Val)	HIC1, LOC130059914 (L286V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105777	NM_006497.4(HIC1):c.751A>G (p.Ser251Gly)	HIC1, LOC130059914 (S270G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105776	NM_006497.4(HIC1):c.-2C>A	HIC1 (T19K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105775	NM_006497.4(HIC1):c.2061C>A (p.Asp687Glu)	HIC1, LOC130059917 (D687E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105772	NM_006497.4(HIC1):c.1808C>T (p.Ala603Val)	HIC1 (A603V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105771	NM_006497.4(HIC1):c.1006C>T (p.Arg336Cys)	HIC1, LOC130059914 (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063527	GRCh37/hg19 17p13.3(chr17:1505119-3010963)x1	CLUH, DPH1 +26 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2685591	GRCh37/hg19 17p13.3(chr17:1225474-2201587)x1	CRK, DPH1 +21 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685590	GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1	ABR, ASPA +57 more	Copy number loss	not provided	GPathogenic
Select item 2684825	GRCh37/hg19 17p13.3(chr17:526-2687966)x3	ABR, BHLHA9 +42 more	Copy number gain	not provided	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647215	NM_006497.4(HIC1):c.7G>A (p.Asp3Asn)	HIC1 (D22N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623387	NM_006497.4(HIC1):c.2140A>G (p.Thr714Ala)	HIC1, LOC130059918 (T714A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2544206	NM_006497.4(HIC1):c.1937A>G (p.Gln646Arg)	HIC1 (Q665R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543580	NM_006497.4(HIC1):c.421G>A (p.Gly141Ser)	HIC1 (G141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535735	NM_006497.4(HIC1):c.2141C>G (p.Thr714Ser)	HIC1, LOC130059918 (T733S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533931	NM_006497.4(HIC1):c.1694T>C (p.Ile565Thr)	HIC1 (I565T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514121	NM_006497.4(HIC1):c.1003G>C (p.Glu335Gln)	HIC1, LOC130059914 (E335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513062	NM_006497.4(HIC1):c.110C>T (p.Ala37Val)	HIC1 (A37V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479717	NM_006497.4(HIC1):c.256C>T (p.Arg86Cys)	HIC1, LOC130059912 (R105C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470661	NM_006497.4(HIC1):c.2073G>C (p.Glu691Asp)	HIC1, LOC130059917 (E691D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458798	NM_006497.4(HIC1):c.307G>C (p.Ala103Pro)	HIC1, LOC130059912 (A122P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2407745	NM_006497.4(HIC1):c.1832G>A (p.Gly611Glu)	HIC1 (G630E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403418	NM_006497.4(HIC1):c.208G>A (p.Val70Met)	HIC1 (V89M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403085	NM_006497.4(HIC1):c.512C>G (p.Pro171Arg)	HIC1, LOC130059913 (P171R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379856	NM_006497.4(HIC1):c.1270G>A (p.Gly424Ser)	HIC1 (G424S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361777	NM_006497.4(HIC1):c.1388T>G (p.Leu463Arg)	HIC1, LOC130059916 (L482R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350931	NM_006497.4(HIC1):c.797C>G (p.Ala266Gly)	HIC1, LOC130059914 (A266G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350930	NM_006497.4(HIC1):c.796G>A (p.Ala266Thr)	HIC1, LOC130059914 (A266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350774	NM_006497.4(HIC1):c.1409G>A (p.Gly470Asp)	HIC1, LOC130059916 (G470D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342149	NM_006497.4(HIC1):c.-20-327C>G	HIC1 (S12W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326206	NM_006497.4(HIC1):c.545C>G (p.Ala182Gly)	HIC1, LOC130059913 (A182G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325971	NM_006497.4(HIC1):c.616C>T (p.Pro206Ser)	HIC1 (P206S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319127	NM_006497.4(HIC1):c.1328A>T (p.Glu443Val)	HIC1, LOC130059915 (E443V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295123	NM_006497.4(HIC1):c.2077C>A (p.Leu693Met)	HIC1, LOC130059917 (L693M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266281	NM_006497.4(HIC1):c.2094C>G (p.His698Gln)	HIC1, LOC130059917 (H698Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253176	NM_006497.4(HIC1):c.2090C>T (p.Ala697Val)	HIC1, LOC130059917 (A697V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248701	NM_006497.4(HIC1):c.1732G>C (p.Gly578Arg)	HIC1 (G578R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245392	NM_006497.4(HIC1):c.866G>A (p.Arg289His)	HIC1, LOC130059914 (R308H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222951	NM_006497.4(HIC1):c.-20-357C>T	HIC1 (T2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221492	NM_006497.4(HIC1):c.1445G>A (p.Gly482Glu)	HIC1 (G482E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808588	GRCh37/hg19 17p13.3(chr17:1377247-2455613)x3	DPH1, HIC1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1807785	GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3	ASPA, BHLHA9 +46 more	Copy number gain	not provided	GPathogenic
Select item 981204	GRCh37/hg19 17p13.3(chr17:84287-2468384)x1	MNT, MRM3 +39 more	Copy number loss	Distal 17p13.3 microdeletion syndrome	GPathogenic
Select item 816555	GRCh37/hg19 17p13.3(chr17:1737911-2233965)x1	SMG6, MIR212 +8 more	Copy number loss	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815874	GRCh37/hg19 17p13.3(chr17:525-2221159)x1	ABR, BHLHA9 +36 more	Copy number loss	not provided	GPathogenic
Select item 787725	NM_006497.4(HIC1):c.1369G>A (p.Ala457Thr)	HIC1, LOC130059915 (A457T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784347	NM_006497.4(HIC1):c.1551A>G (p.Pro517=)	HIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726005	NM_006497.4(HIC1):c.1728G>A (p.Val576=)	HIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723622	NM_006497.4(HIC1):c.1398T>C (p.Pro466=)	HIC1, LOC130059916	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720012	NM_006497.4(HIC1):c.1416C>T (p.Asp472=)	HIC1, LOC130059916	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718287	NM_006497.4(HIC1):c.252C>T (p.Thr84=)	HIC1, LOC130059912	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713207	NM_006497.4(HIC1):c.1230C>T (p.Pro410=)	HIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712292	NM_006497.4(HIC1):c.1143C>T (p.Ser381=)	HIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687701	GRCh37/hg19 17p13.3(chr17:1501331-2832123)x3	CLUH, DPH1 +24 more	Copy number gain	not provided	GPathogenic
Select item 686181	GRCh37/hg19 17p13.3(chr17:1690502-1992920)x3	DPH1, HIC1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 544685	GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5	INPP5K, LIAT1 +41 more	Copy number gain	Echogenic fetal bowel +4 more	GUncertain significance
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	DPH1, HIC1 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 443660	GRCh37/hg19 17p13.3(chr17:800049-2390454)x1	ABR, BHLHA9 +31 more	Copy number loss	See cases	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443265	GRCh37/hg19 17p13.3(chr17:525-2750745)x1	ABR, BHLHA9 +43 more	Copy number loss	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442860	GRCh37/hg19 17p13.3(chr17:525-1968434)x1	ABR, BHLHA9 +35 more	Copy number loss	See cases	GPathogenic
Select item 442755	GRCh37/hg19 17p13.3(chr17:525-2264023)x1	ABR, BHLHA9 +38 more	Copy number loss	See cases	GPathogenic
Select item 442222	GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3	ASPA, CLUH +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394497	GRCh37/hg19 17p13.3(chr17:1936753-2901448)x1	CLUH, DPH1 +12 more	Copy number loss	See cases	GPathogenic
Select item 394439	GRCh37/hg19 17p13.3(chr17:48858-2940028)x1	NXN, OVCA2 +42 more	Copy number loss	See cases	GPathogenic
Select item 394212	GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1	ABR, ASPA +55 more	Copy number loss	See cases	GPathogenic
Select item 393889	GRCh37/hg19 17p13.3(chr17:6160-2002365)	ABR, BHLHA9 +35 more	Copy number gain	See cases	GPathogenic
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic

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