25904[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC130010067, LOC130010068 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130009970, LOC130009971 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 57682	GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1	CLYBL, CLYBL-AS1 +95 more	Copy number loss	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 2352429	NM_032813.5(TMTC4):c.2207C>A (p.Pro736His)	TMTC4 (P606H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536313	NM_032813.5(TMTC4):c.2201T>G (p.Leu734Arg)	TMTC4 (L713R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180073	NM_032813.5(TMTC4):c.2198A>G (p.Gln733Arg)	TMTC4 (Q603R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474296	NM_032813.5(TMTC4):c.2182T>C (p.Tyr728His)	TMTC4 (Y728H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180072	NM_032813.5(TMTC4):c.2155G>C (p.Gly719Arg)	TMTC4 (G719R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344844	NM_032813.5(TMTC4):c.2020A>G (p.Met674Val)	TMTC4 (M674V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279148	NM_032813.5(TMTC4):c.1901C>T (p.Pro634Leu)	TMTC4 (P504L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180071	NM_032813.5(TMTC4):c.1891G>A (p.Val631Met)	TMTC4 (V610M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180070	NM_032813.5(TMTC4):c.1850A>G (p.Asn617Ser)	TMTC4 (N617S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209330	NM_032813.5(TMTC4):c.1823A>G (p.Asn608Ser)	TMTC4 (N608S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180069	NM_032813.5(TMTC4):c.1778G>A (p.Arg593Gln)	TMTC4 (R572Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467989	NM_032813.5(TMTC4):c.1751G>A (p.Arg584Gln)	TMTC4 (R454Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539650	NM_032813.5(TMTC4):c.1744C>G (p.Leu582Val)	TMTC4 (L452V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476132	NM_032813.5(TMTC4):c.1720A>G (p.Asn574Asp)	TMTC4 (N555D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180068	NM_032813.5(TMTC4):c.1712C>A (p.Ala571Glu)	TMTC4 (A441E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267454	NM_032813.5(TMTC4):c.1708G>A (p.Ala570Thr)	TMTC4 (A440T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301356	NM_032813.5(TMTC4):c.1583T>G (p.Val528Gly)	TMTC4 (V526G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412234	NM_032813.5(TMTC4):c.1574G>A (p.Arg525Gln)	TMTC4 (R523Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365586	NM_032813.5(TMTC4):c.1565G>T (p.Arg522Ile)	TMTC4 (R520I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256360	NM_032813.5(TMTC4):c.1531C>A (p.Leu511Met)	TMTC4 (L381M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180066	NM_032813.5(TMTC4):c.1499A>G (p.Asn500Ser)	TMTC4 (N370S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410095	NM_032813.5(TMTC4):c.1478C>A (p.Ala493Asp)	TMTC4 (A363D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458997	NM_032813.5(TMTC4):c.1451G>A (p.Arg484Gln)	TMTC4 (R463Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180065	NM_032813.5(TMTC4):c.1444G>A (p.Glu482Lys)	TMTC4 (E352K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371227	NM_032813.5(TMTC4):c.1418C>T (p.Thr473Met)	TMTC4 (T454M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523082	NM_032813.5(TMTC4):c.1393G>A (p.Val465Met)	TMTC4 (V446M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564983	NM_032813.5(TMTC4):c.1360C>T (p.His454Tyr)	TMTC4 (H452Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594807	NM_032813.5(TMTC4):c.1279G>A (p.Val427Met)	TMTC4 (V425M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237377	NM_032813.5(TMTC4):c.1268G>A (p.Arg423Gln)	TMTC4 (R423Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258423	NM_032813.5(TMTC4):c.1235T>C (p.Ile412Thr)	TMTC4 (I412T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402551	NM_032813.5(TMTC4):c.1231G>A (p.Val411Ile)	TMTC4 (V390I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3180064	NM_032813.5(TMTC4):c.1223G>A (p.Gly408Glu)	TMTC4 (G278E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180063	NM_032813.5(TMTC4):c.1193A>G (p.His398Arg)	TMTC4 (H268R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 92045	NM_032813.5(TMTC4):c.1192C>T (p.His398Tyr)	TMTC4 (H398Y +6 more)	Single nucleotide variant (missense variant +1 more)	Worster-Drought syndrome	GUncertain significance
Select item 2257349	NM_032813.5(TMTC4):c.1160T>G (p.Leu387Arg)	TMTC4 (L368R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180062	NM_032813.5(TMTC4):c.1127C>T (p.Ala376Val)	TMTC4 (A357V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379200	NM_032813.5(TMTC4):c.1124T>C (p.Ile375Thr)	TMTC4 (I245T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180061	NM_032813.5(TMTC4):c.1094T>G (p.Leu365Arg)	TMTC4 (L365R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180060	NM_032813.5(TMTC4):c.1064G>A (p.Cys355Tyr)	TMTC4 (C394Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392798	NM_032813.5(TMTC4):c.1045C>G (p.Leu349Val)	TMTC4 (L219V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271166	NM_032813.5(TMTC4):c.1019A>G (p.Tyr340Cys)	TMTC4 (Y210C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210401	NM_032813.5(TMTC4):c.1013A>G (p.Asn338Ser)	TMTC4 (N336S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180079	NM_032813.5(TMTC4):c.974C>T (p.Ser325Phe)	TMTC4 (S364F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643895	NM_032813.5(TMTC4):c.969G>A (p.Pro323=)	TMTC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2523549	NM_032813.5(TMTC4):c.944C>T (p.Pro315Leu)	TMTC4 (P373L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180078	NM_032813.5(TMTC4):c.941C>T (p.Pro314Leu)	TMTC4 (P184L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383398	NM_032813.5(TMTC4):c.935C>T (p.Thr312Met)	TMTC4 (T182M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232645	NM_032813.5(TMTC4):c.917G>T (p.Arg306Leu)	TMTC4 (R345L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180077	NM_032813.5(TMTC4):c.913G>C (p.Val305Leu)	TMTC4 (V286L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540494	NM_032813.5(TMTC4):c.911A>G (p.Tyr304Cys)	TMTC4 (Y343C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376507	NM_032813.5(TMTC4):c.841G>T (p.Gly281Cys)	TMTC4 (G262C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216968	NM_032813.5(TMTC4):c.809T>G (p.Val270Gly)	TMTC4 (V140G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404410	NM_032813.5(TMTC4):c.643A>G (p.Asn215Asp)	TMTC4 (N196D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533835	NM_032813.5(TMTC4):c.578A>C (p.Asp193Ala)	TMTC4 (D174A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2921300	NM_032813.5(TMTC4):c.575C>T (p.Ala192Val)	TMTC4 (A192V +2 more)	Single nucleotide variant (missense variant +1 more)	Hearing loss, autosomal recessive 122	GPathogenic
Select item 2921299	NM_032813.5(TMTC4):c.547G>A (p.Glu183Lys)	TMTC4 (E183K +1 more)	Single nucleotide variant (missense variant +2 more)	Hearing loss, autosomal recessive 122	GPathogenic
Select item 2251090	NM_032813.5(TMTC4):c.538G>T (p.Val180Leu)	TMTC4 (V161L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360247	NM_032813.5(TMTC4):c.514G>A (p.Ala172Thr)	TMTC4 (A172T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536997	NM_032813.5(TMTC4):c.435C>G (p.Phe145Leu)	TMTC4 (F126L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225726	NM_032813.5(TMTC4):c.389A>G (p.Asn130Ser)	TMTC4 (N130S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517989	NM_032813.5(TMTC4):c.374G>A (p.Gly125Asp)	TMTC4 (G125D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355692	NM_032813.5(TMTC4):c.370G>A (p.Val124Met)	TMTC4 (V105M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3180075	NM_032813.5(TMTC4):c.301A>C (p.Lys101Gln)	TMTC4 (K82Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3180074	NM_032813.5(TMTC4):c.236C>T (p.Thr79Met)	TMTC4 (T60M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276704	NM_032813.5(TMTC4):c.220G>T (p.Asp74Tyr)	TMTC4 (D55Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404105	NM_032813.5(TMTC4):c.180C>A (p.Asp60Glu)	TMTC4 (D60E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296438	NM_032813.5(TMTC4):c.140C>T (p.Ser47Leu)	TMTC4 (S28L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2570075	NM_032813.5(TMTC4):c.44C>T (p.Pro15Leu)	TMTC4 (P15L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic

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