ClinVar for Gene (Select 130162) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2423801	NC_000002.11:g.(?_54278075)_(55549848_?)dup	ACYP2, CCDC88A +8 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 65