19967[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	EDDM3B, EFCAB11 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	TRI-AAT5-4, TRIP11 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC126862009, LOC126862010 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056505, LOC130056506 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58334	GRCh38/hg38 14q32.11(chr14:90495001-91296461)x3	CCDC88C, DGLUCY +45 more	Copy number gain	See cases	GUncertain significance
Select item 2808324	NM_001080414.4(CCDC88C):c.6081T>C (p.Cys2027=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781317	NM_001080414.4(CCDC88C):c.6078C>T (p.Gly2026=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015740	NM_001080414.4(CCDC88C):c.6075C>T (p.Tyr2025=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2998953	NM_001080414.4(CCDC88C):c.6060C>T (p.Thr2020=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009281	NM_001080414.4(CCDC88C):c.6054G>T (p.Pro2018=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981206	NM_001080414.4(CCDC88C):c.6054G>A (p.Pro2018=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439811	NM_001080414.4(CCDC88C):c.6046G>A (p.Gly2016Arg)	CCDC88C (G2016R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017583	NM_001080414.4(CCDC88C):c.6045C>T (p.Gly2015=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983323	NM_001080414.4(CCDC88C):c.6045C>G (p.Gly2015=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790859	NM_001080414.4(CCDC88C):c.6043G>A (p.Gly2015Ser)	CCDC88C (G2015S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2887377	NM_001080414.4(CCDC88C):c.6042C>T (p.Pro2014=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906785	NM_001080414.4(CCDC88C):c.6036G>A (p.Pro2012=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342715	NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu)	CCDC88C (P2012L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40	GUncertain significance
Select item 2384088	NM_001080414.4(CCDC88C):c.6032C>G (p.Ser2011Cys)	CCDC88C (S2011C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708836	NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)	CCDC88C	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 40 +2 more	GBenign/Likely benign
Select item 444336	NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)	CCDC88C (P2009L)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +3 more	GUncertain significance
Select item 447025	NM_001080414.4(CCDC88C):c.6024T>C (p.Ser2008=)	CCDC88C	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2881382	NM_001080414.4(CCDC88C):c.6018G>A (p.Lys2006=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064928	NM_001080414.4(CCDC88C):c.6016_6017del (p.Lys2006fs)	CCDC88C (K2006fs)	Deletion (frameshift variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1	GUncertain significance
Select item 2895259	NM_001080414.4(CCDC88C):c.6012C>A (p.Val2004=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083166	NM_001080414.4(CCDC88C):c.6010G>A (p.Val2004Ile)	CCDC88C (V2004I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988542	NM_001080414.4(CCDC88C):c.6009C>T (p.Ser2003=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238427	NM_001080414.4(CCDC88C):c.6001C>T (p.Arg2001Ter)	CCDC88C (R2001*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2846560	NM_001080414.4(CCDC88C):c.5997C>T (p.Cys1999=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822795	NM_001080414.4(CCDC88C):c.5988G>A (p.Leu1996=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3139592	NM_001080414.4(CCDC88C):c.5983G>T (p.Ala1995Ser)	CCDC88C (A1995S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2662321	NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)	CCDC88C (R1994L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2162396	NM_001080414.4(CCDC88C):c.5981G>A (p.Arg1994Gln)	CCDC88C (R1994Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713973	NM_001080414.4(CCDC88C):c.5980C>A (p.Arg1994=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158119	NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly)	CCDC88C (R1994G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2830418	NM_001080414.4(CCDC88C):c.5975_5976delinsCG (p.Leu1992Pro)	CCDC88C (L1992P)	Indel (missense variant)	not provided	GLikely benign
Select item 447024	NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro)	CCDC88C (L1992P)	Indel (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 158118	NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro)	CCDC88C (L1992P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +3 more	GBenign
Select item 2787410	NM_001080414.4(CCDC88C):c.5970C>T (p.Pro1990=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901403	NM_001080414.4(CCDC88C):c.5970C>A (p.Pro1990=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904807	NM_001080414.4(CCDC88C):c.5958C>T (p.Pro1986=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 158117	NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys)	CCDC88C (S1985C)	Single nucleotide variant (missense variant)	CCDC88C-related disorder +2 more	GBenign
Select item 377273	NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)	CCDC88C (R1984Q)	Single nucleotide variant (missense variant)	Hydrocephalus, nonsyndromic, autosomal recessive 1 +4 more	GBenign/Likely benign
Select item 1902924	NM_001080414.4(CCDC88C):c.5950C>T (p.Arg1984Trp)	CCDC88C (R1984W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158116	NM_001080414.4(CCDC88C):c.5948G>C (p.Gly1983Ala)	CCDC88C (G1983A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1956065	NM_001080414.4(CCDC88C):c.5936C>T (p.Ala1979Val)	CCDC88C (A1979V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3139591	NM_001080414.4(CCDC88C):c.5935G>T (p.Ala1979Ser)	CCDC88C (A1979S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2723302	NM_001080414.4(CCDC88C):c.5934G>C (p.Pro1978=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743124	NM_001080414.4(CCDC88C):c.5934G>A (p.Pro1978=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192281	NM_001080414.4(CCDC88C):c.5933C>T (p.Pro1978Leu)	CCDC88C (P1978L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987611	NM_001080414.4(CCDC88C):c.5928G>A (p.Gly1976=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052438	NM_001080414.4(CCDC88C):c.5927G>C (p.Gly1976Ala)	CCDC88C (G1976A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790902	NM_001080414.4(CCDC88C):c.5925G>A (p.Glu1975=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439812	NM_001080414.4(CCDC88C):c.5924_5925del (p.Glu1975fs)	CCDC88C (E1975fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2068538	NM_001080414.4(CCDC88C):c.5922T>G (p.Ser1974Arg)	CCDC88C (S1974R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2911588	NM_001080414.4(CCDC88C):c.5916C>A (p.Gly1972=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954958	NM_001080414.4(CCDC88C):c.5907G>A (p.Pro1969=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1337020	NM_001080414.4(CCDC88C):c.5906C>T (p.Pro1969Leu)	CCDC88C (P1969L)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2801011	NM_001080414.4(CCDC88C):c.5904C>T (p.Val1968=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3264393	NM_001080414.4(CCDC88C):c.5899G>A (p.Gly1967Arg)	CCDC88C (G1967R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889173	NM_001080414.4(CCDC88C):c.5898C>T (p.Asp1966=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901901	NM_001080414.4(CCDC88C):c.5894G>A (p.Gly1965Glu)	CCDC88C (G1965E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475888	NM_001080414.4(CCDC88C):c.5883C>A (p.Ser1961Arg)	CCDC88C (S1961R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978729	NM_001080414.4(CCDC88C):c.5877G>A (p.Gly1959=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902092	NM_001080414.4(CCDC88C):c.5869C>T (p.Arg1957Trp)	CCDC88C (R1957W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1983419	NM_001080414.4(CCDC88C):c.5861C>A (p.Thr1954Asn)	CCDC88C (T1954N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2320063	NM_001080414.4(CCDC88C):c.5855C>G (p.Thr1952Ser)	CCDC88C (T1952S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 39862	NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)	CCDC88C (E1949fs)	Deletion (frameshift variant)	Congenital hydrocephalus	GLikely pathogenic
Select item 2795920	NM_001080414.4(CCDC88C):c.5841A>G (p.Ser1947=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807160	NM_001080414.4(CCDC88C):c.5836C>T (p.Arg1946Cys)	CCDC88C (R1946C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2746211	NM_001080414.4(CCDC88C):c.5834del (p.Pro1945fs)	CCDC88C (P1945fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2920312	NM_001080414.4(CCDC88C):c.5829G>T (p.Ala1943=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051045	NM_001080414.4(CCDC88C):c.5829G>A (p.Ala1943=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874193	NM_001080414.4(CCDC88C):c.5817C>T (p.Thr1939=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009052	NM_001080414.4(CCDC88C):c.5811C>T (p.Ala1937=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870982	NM_001080414.4(CCDC88C):c.5805G>C (p.Pro1935=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729061	NM_001080414.4(CCDC88C):c.5805G>A (p.Pro1935=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814211	NM_001080414.4(CCDC88C):c.5802C>T (p.Ala1934=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703577	NM_001080414.4(CCDC88C):c.5799A>C (p.Ala1933=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3139590	NM_001080414.4(CCDC88C):c.5794G>C (p.Ala1932Pro)	CCDC88C (A1932P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2010702	NM_001080414.4(CCDC88C):c.5787C>T (p.Phe1929=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785240	NM_001080414.4(CCDC88C):c.5778C>G (p.Leu1926=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108230	NM_001080414.4(CCDC88C):c.5777T>G (p.Leu1926Arg)	CCDC88C (L1926R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005913	NM_001080414.4(CCDC88C):c.5772C>T (p.Ser1924=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521562	NM_001080414.4(CCDC88C):c.5765G>A (p.Ser1922Asn)	CCDC88C (S1922N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3139589	NM_001080414.4(CCDC88C):c.5764A>G (p.Ser1922Gly)	CCDC88C (S1922G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776853	NM_001080414.4(CCDC88C):c.5761G>A (p.Gly1921Ser)	CCDC88C (G1921S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2785311	NM_001080414.4(CCDC88C):c.5757C>T (p.Gly1919=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601229	NM_001080414.4(CCDC88C):c.5728A>T (p.Thr1910Ser)	CCDC88C (T1910S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2918713	NM_001080414.4(CCDC88C):c.5718C>T (p.Pro1906=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874863	NM_001080414.4(CCDC88C):c.5718C>G (p.Pro1906=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895014	NM_001080414.4(CCDC88C):c.5709C>T (p.Ala1903=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593224	NM_001080414.4(CCDC88C):c.5695del (p.Leu1899fs)	CCDC88C (L1899fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 2874209	NM_001080414.4(CCDC88C):c.5694C>G (p.Pro1898=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783040	NM_001080414.4(CCDC88C):c.5694C>A (p.Pro1898=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119701	NM_001080414.4(CCDC88C):c.5692C>T (p.Pro1898Ser)	CCDC88C (P1898S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2231437	NM_001080414.4(CCDC88C):c.5690C>T (p.Ala1897Val)	CCDC88C (A1897V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2710651	NM_001080414.4(CCDC88C):c.5688G>A (p.Leu1896=)	CCDC88C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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