CLHC1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 3145748	NM_152385.4(CLHC1):c.1699G>A (p.Ala567Thr)	CLHC1 (A427T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145747	NM_152385.4(CLHC1):c.1688G>A (p.Arg563Gln)	CLHC1 (R357Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363643	NM_152385.4(CLHC1):c.1676C>T (p.Thr559Met)	CLHC1 (T419M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3145746	NM_152385.4(CLHC1):c.1638T>G (p.Cys546Trp)	CLHC1 (C406W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403572	NM_152385.4(CLHC1):c.1606A>G (p.Ile536Val)	CLHC1 (I330V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145744	NM_152385.4(CLHC1):c.1571T>C (p.Val524Ala)	CLHC1 (V336A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624156	NM_152385.4(CLHC1):c.1555G>T (p.Gly519Cys)	CLHC1 (G453C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232680	NM_152385.4(CLHC1):c.1526G>A (p.Gly509Asp)	CLHC1 (G303D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267722	NM_152385.4(CLHC1):c.1469C>A (p.Ser490Tyr)	CLHC1 (S302Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398290	NM_152385.4(CLHC1):c.1463A>C (p.Gln488Pro)	CLHC1 (Q348P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2400618	NM_152385.4(CLHC1):c.1337C>G (p.Thr446Ser)	CLHC1 (T380S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491184	NM_152385.4(CLHC1):c.1272G>C (p.Gln424His)	CLHC1 (Q218H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267718	NM_152385.4(CLHC1):c.1231C>G (p.Gln411Glu)	CLHC1 (Q411E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284256	NM_152385.4(CLHC1):c.1226G>C (p.Gly409Ala)	CLHC1 (G221A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267723	NM_152385.4(CLHC1):c.1167G>C (p.Trp389Cys)	CLHC1 (W183C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513901	NM_152385.4(CLHC1):c.1147T>A (p.Leu383Ile)	CLHC1 (L243I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 183280	NM_152385.4(CLHC1):c.1145G>A (p.Arg382Gln)	CLHC1 (R260Q +5 more)	Single nucleotide variant (missense variant +1 more)	Waddling gait +1 more	GLikely pathogenic
Select item 2286232	NM_152385.4(CLHC1):c.1100C>T (p.Ala367Val)	CLHC1 (A161V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279727	NM_152385.4(CLHC1):c.1090C>A (p.Pro364Thr)	CLHC1 (P298T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286295	NM_152385.4(CLHC1):c.1088G>T (p.Cys363Phe)	CLHC1 (C223F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355976	NM_152385.4(CLHC1):c.1061T>G (p.Leu354Arg)	CLHC1 (L214R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215559	NM_152385.4(CLHC1):c.1043T>C (p.Leu348Pro)	CLHC1 (L142P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404019	NM_152385.4(CLHC1):c.1007C>G (p.Ala336Gly)	CLHC1 (A148G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688792	NM_152385.4(CLHC1):c.976C>T (p.Arg326Ter)	CLHC1 (R120* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2390134	NM_152385.4(CLHC1):c.852T>A (p.Asp284Glu)	CLHC1 (D162E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300664	NM_152385.4(CLHC1):c.847G>C (p.Asp283His)	CLHC1 (D143H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239593	NM_152385.4(CLHC1):c.793C>A (p.Gln265Lys)	CLHC1 (Q265K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527874	NM_152385.4(CLHC1):c.781G>A (p.Val261Met)	CLHC1 (V139M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303327	NM_152385.4(CLHC1):c.737G>A (p.Ser246Asn)	CLHC1 (S124N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267720	NM_152385.4(CLHC1):c.621G>C (p.Lys207Asn)	CLHC1 (K207N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543786	NM_152385.4(CLHC1):c.616A>G (p.Arg206Gly)	CLHC1 (R84G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463795	NM_152385.4(CLHC1):c.587C>T (p.Ala196Val)	CLHC1 (A56V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484818	NM_152385.4(CLHC1):c.526C>G (p.Leu176Val)	CLHC1 (L176V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486028	NM_152385.4(CLHC1):c.523A>C (p.Asn175His)	CLHC1 (N35H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605866	NM_152385.4(CLHC1):c.481C>A (p.Pro161Thr)	CLHC1 (P39T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321638	NM_152385.4(CLHC1):c.437A>G (p.Glu146Gly)	CLHC1 (E146G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368336	NM_152385.4(CLHC1):c.392C>T (p.Ser131Leu)	CLHC1 (S9L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2477170	NM_152385.4(CLHC1):c.376A>G (p.Ile126Val)	CLHC1 (I126V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3145751	NM_152385.4(CLHC1):c.374T>A (p.Ile125Asn)	CLHC1 (I3N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267719	NM_152385.4(CLHC1):c.367A>G (p.Met123Val)	CLHC1 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3145750	NM_152385.4(CLHC1):c.347C>T (p.Thr116Ile)	CLHC1 (Q21* +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3267721	NM_152385.4(CLHC1):c.241T>C (p.Phe81Leu)	CLHC1 (F81L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3145749	NM_152385.4(CLHC1):c.236A>C (p.Asp79Ala)	CLHC1 (D79A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2516766	NM_152385.4(CLHC1):c.65A>G (p.Glu22Gly)	CLHC1 (E22G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2423801	NC_000002.11:g.(?_54278075)_(55549848_?)dup	ACYP2, CCDC88A +8 more	Duplication	not provided	GUncertain significance
Select item 1808076	GRCh37/hg19 2p16.1(chr2:55393367-55627759)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807595	GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3	CCDC88A, CFAP36 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526729	GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)	C2orf73, CCDC88A +6 more	Copy number gain	not specified	GUncertain significance
Select item 1340353	GRCh37/hg19 2p16.1(chr2:55365532-55475705)x1	CLHC1, MTIF2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340158	GRCh37/hg19 2p16.1(chr2:55365532-55449759)x1	CLHC1	Copy number loss	not provided	GLikely benign
Select item 814264	GRCh37/hg19 2p16.1(chr2:55365531-55475705)x1	CLHC1, RPS27A +1 more	Copy number loss	not provided	GUncertain significance
Select item 688606	GRCh37/hg19 2p16.1(chr2:55373561-55449759)x1	CLHC1	Copy number loss	not provided	GUncertain significance
Select item 688252	GRCh37/hg19 2p16.1(chr2:55385346-55562517)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686368	GRCh37/hg19 2p16.1(chr2:55373228-55449759)x1	CLHC1	Copy number loss	not provided	GUncertain significance
Select item 685467	GRCh37/hg19 2p16.1(chr2:55378531-55640033)x3	CCDC88A, CLHC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65