25931[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 145035	GRCh38/hg38 15q21.3(chr15:57363807-57456076)x3	CGNL1	Copy number gain	See cases	GBenign
Select item 221752	GRCh38/hg38 15q21.3(chr15:57374829-57442092)x1	CGNL1	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 3052115	NM_032866.5(CGNL1):c.45T>C (p.Tyr15=)	CGNL1	Single nucleotide variant (synonymous variant)	CGNL1-related disorder	GLikely benign
Select item 2264660	NM_032866.5(CGNL1):c.97C>A (p.Gln33Lys)	CGNL1 (Q33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057730	NM_032866.5(CGNL1):c.111A>G (p.Ala37=)	CGNL1	Single nucleotide variant (synonymous variant)	CGNL1-related disorder	GLikely benign
Select item 2535382	NM_032866.5(CGNL1):c.121G>C (p.Gly41Arg)	CGNL1 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329303	NM_032866.5(CGNL1):c.185G>C (p.Arg62Pro)	CGNL1 (R62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143942	NM_032866.5(CGNL1):c.190C>G (p.Leu64Val)	CGNL1 (L64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597952	NM_032866.5(CGNL1):c.203C>G (p.Ser68Trp)	CGNL1 (S68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266741	NM_032866.5(CGNL1):c.218G>A (p.Gly73Glu)	CGNL1 (G73E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143946	NM_032866.5(CGNL1):c.233C>A (p.Pro78His)	CGNL1 (P78H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551257	NM_032866.5(CGNL1):c.294T>G (p.Ser98Arg)	CGNL1 (S98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143954	NM_032866.5(CGNL1):c.319C>G (p.Pro107Ala)	CGNL1 (P107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266751	NM_032866.5(CGNL1):c.331C>A (p.Pro111Thr)	CGNL1 (P111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143956	NM_032866.5(CGNL1):c.335G>A (p.Ser112Asn)	CGNL1 (S112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143957	NM_032866.5(CGNL1):c.340A>G (p.Ile114Val)	CGNL1 (I114V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266748	NM_032866.5(CGNL1):c.389T>G (p.Leu130Arg)	CGNL1 (L130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143963	NM_032866.5(CGNL1):c.394C>G (p.Arg132Gly)	CGNL1 (R132G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143964	NM_032866.5(CGNL1):c.421C>T (p.His141Tyr)	CGNL1 (H141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143965	NM_032866.5(CGNL1):c.445C>T (p.Pro149Ser)	CGNL1 (P149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061074	NM_032866.5(CGNL1):c.460C>A (p.Pro154Thr)	CGNL1 (P154T)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GUncertain significance
Select item 2205603	NM_032866.5(CGNL1):c.505C>G (p.Pro169Ala)	CGNL1 (P169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239402	NM_032866.5(CGNL1):c.506C>T (p.Pro169Leu)	CGNL1 (P169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326766	NM_032866.5(CGNL1):c.625G>A (p.Ala209Thr)	CGNL1 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251708	NM_032866.5(CGNL1):c.638T>C (p.Val213Ala)	CGNL1 (V213A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274431	NM_032866.5(CGNL1):c.674A>T (p.Glu225Val)	CGNL1 (E225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223346	NM_032866.5(CGNL1):c.701G>A (p.Cys234Tyr)	CGNL1 (C234Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245945	NM_032866.5(CGNL1):c.716G>C (p.Ser239Thr)	CGNL1 (S239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143966	NM_032866.5(CGNL1):c.796C>G (p.Pro266Ala)	CGNL1 (P266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302122	NM_032866.5(CGNL1):c.797C>T (p.Pro266Leu)	CGNL1 (P266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266744	NM_032866.5(CGNL1):c.802A>T (p.Thr268Ser)	CGNL1 (T268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046486	NM_032866.5(CGNL1):c.816G>A (p.Arg272=)	CGNL1	Single nucleotide variant (synonymous variant)	CGNL1-related disorder	GLikely benign
Select item 3050898	NM_032866.5(CGNL1):c.966T>C (p.His322=)	CGNL1	Single nucleotide variant (synonymous variant)	CGNL1-related disorder	GLikely benign
Select item 3143967	NM_032866.5(CGNL1):c.974A>C (p.Asn325Thr)	CGNL1 (N325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622122	NM_032866.5(CGNL1):c.976G>A (p.Val326Ile)	CGNL1 (V326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629191	NM_032866.5(CGNL1):c.1022C>A (p.Thr341Asn)	CGNL1 (T341N)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GUncertain significance
Select item 2352015	NM_032866.5(CGNL1):c.1031A>G (p.Asp344Gly)	CGNL1 (D344G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389487	NM_032866.5(CGNL1):c.1048A>G (p.Ile350Val)	CGNL1 (I350V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618241	NM_032866.5(CGNL1):c.1055G>C (p.Gly352Ala)	CGNL1 (G352A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372382	NM_032866.5(CGNL1):c.1070T>C (p.Ile357Thr)	CGNL1 (I357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541003	NM_032866.5(CGNL1):c.1077A>T (p.Lys359Asn)	CGNL1 (K359N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597918	NM_032866.5(CGNL1):c.1084C>A (p.Gln362Lys)	CGNL1 (Q362K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491742	NM_032866.5(CGNL1):c.1097T>C (p.Leu366Pro)	CGNL1 (L366P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378495	NM_032866.5(CGNL1):c.1106G>A (p.Arg369Lys)	CGNL1 (R369K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304004	NM_032866.5(CGNL1):c.1107A>C (p.Arg369Ser)	CGNL1 (R369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281019	NM_032866.5(CGNL1):c.1117G>A (p.Gly373Arg)	CGNL1 (G373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060718	NM_032866.5(CGNL1):c.1138A>C (p.Thr380Pro)	CGNL1 (T380P)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GBenign
Select item 3050618	NM_032866.5(CGNL1):c.1187G>T (p.Gly396Val)	CGNL1 (G396V)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GLikely benign
Select item 3143937	NM_032866.5(CGNL1):c.1207T>C (p.Tyr403His)	CGNL1 (Y403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470557	NM_032866.5(CGNL1):c.1259G>C (p.Arg420Pro)	CGNL1 (R420P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266743	NM_032866.5(CGNL1):c.1285C>T (p.Pro429Ser)	CGNL1 (P429S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266753	NM_032866.5(CGNL1):c.1318G>A (p.Val440Met)	CGNL1 (V440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735974	NM_032866.5(CGNL1):c.1318G>T (p.Val440Leu)	CGNL1 (V440L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2487043	NM_032866.5(CGNL1):c.1366T>C (p.Cys456Arg)	CGNL1 (C456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059347	NM_032866.5(CGNL1):c.1376C>T (p.Ser459Phe)	CGNL1 (S459F)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GBenign
Select item 3034970	NM_032866.5(CGNL1):c.1396A>G (p.Ile466Val)	CGNL1 (I466V)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GLikely benign
Select item 3266749	NM_032866.5(CGNL1):c.1453C>T (p.Pro485Ser)	CGNL1 (P485S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143938	NM_032866.5(CGNL1):c.1459C>T (p.Leu487Phe)	CGNL1 (L487F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212318	NM_032866.5(CGNL1):c.1470G>C (p.Gln490His)	CGNL1 (Q490H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481940	NM_032866.5(CGNL1):c.1474A>G (p.Lys492Glu)	CGNL1 (K492E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266740	NM_032866.5(CGNL1):c.1504G>A (p.Ala502Thr)	CGNL1 (A502T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266745	NM_032866.5(CGNL1):c.1526G>C (p.Arg509Pro)	CGNL1 (R509P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061025	NM_032866.5(CGNL1):c.1531A>G (p.Thr511Ala)	CGNL1 (T511A)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GBenign
Select item 2405282	NM_032866.5(CGNL1):c.1583C>T (p.Pro528Leu)	CGNL1 (P528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535808	NM_032866.5(CGNL1):c.1631A>G (p.Gln544Arg)	CGNL1 (Q544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266746	NM_032866.5(CGNL1):c.1661C>T (p.Thr554Ile)	CGNL1 (T554I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458302	NM_032866.5(CGNL1):c.1682A>G (p.Asn561Ser)	CGNL1 (N561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386070	NM_032866.5(CGNL1):c.1690A>G (p.Lys564Glu)	CGNL1 (K564E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645377	NM_032866.5(CGNL1):c.1702A>G (p.Thr568Ala)	CGNL1 (T568A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2552608	NM_032866.5(CGNL1):c.1729A>G (p.Lys577Glu)	CGNL1 (K577E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532160	NM_032866.5(CGNL1):c.1746T>A (p.Phe582Leu)	CGNL1 (F582L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143939	NM_032866.5(CGNL1):c.1755C>G (p.Ile585Met)	CGNL1 (I585M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053289	NM_032866.5(CGNL1):c.1786G>A (p.Ala596Thr)	CGNL1 (A596T)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GLikely benign
Select item 3143940	NM_032866.5(CGNL1):c.1790A>G (p.Gln597Arg)	CGNL1 (Q597R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300308	NM_032866.5(CGNL1):c.1842A>C (p.Glu614Asp)	CGNL1 (E614D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495686	NM_032866.5(CGNL1):c.1900G>A (p.Val634Ile)	CGNL1 (V634I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143941	NM_032866.5(CGNL1):c.1901T>G (p.Val634Gly)	CGNL1 (V634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206647	NM_032866.5(CGNL1):c.1904A>G (p.Lys635Arg)	CGNL1 (K635R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518512	NM_032866.5(CGNL1):c.1943G>C (p.Arg648Thr)	CGNL1 (R648T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035158	NM_032866.5(CGNL1):c.1982A>G (p.Lys661Arg)	CGNL1 (K661R)	Single nucleotide variant (missense variant)	CGNL1-related disorder	GLikely benign
Select item 3266750	NM_032866.5(CGNL1):c.2035C>G (p.Leu679Val)	CGNL1 (L679V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393864	NM_032866.5(CGNL1):c.2038C>T (p.Arg680Trp)	CGNL1 (R680W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237039	NM_032866.5(CGNL1):c.2039G>A (p.Arg680Gln)	CGNL1 (R680Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791196	NM_032866.5(CGNL1):c.2054+9T>C	CGNL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2483672	NM_032866.5(CGNL1):c.2075A>T (p.Glu692Val)	CGNL1 (E692V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280345	NM_032866.5(CGNL1):c.2077C>T (p.Arg693Trp)	CGNL1 (R693W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143943	NM_032866.5(CGNL1):c.2102G>A (p.Arg701Lys)	CGNL1 (R701K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143944	NM_032866.5(CGNL1):c.2134G>A (p.Asp712Asn)	CGNL1 (D712N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic
Select item 2322303	NM_032866.5(CGNL1):c.2221G>T (p.Asp741Tyr)	CGNL1 (D741Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143945	NM_032866.5(CGNL1):c.2263A>G (p.Lys755Glu)	CGNL1 (K755E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234274	NM_032866.5(CGNL1):c.2267G>C (p.Arg756Pro)	CGNL1 (R756P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100883	NM_032866.5(CGNL1):c.2322T>C (p.His774=)	CGNL1	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 2279741	NM_032866.5(CGNL1):c.2332A>T (p.Met778Leu)	CGNL1 (M778L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487027	NM_032866.5(CGNL1):c.2333T>G (p.Met778Arg)	CGNL1 (M778R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222084	NM_032866.5(CGNL1):c.2342T>C (p.Leu781Pro)	CGNL1 (L781P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143947	NM_032866.5(CGNL1):c.2414T>A (p.Val805Asp)	CGNL1 (V805D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300791	NM_032866.5(CGNL1):c.2461G>C (p.Glu821Gln)	CGNL1 (E821Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270765	NM_032866.5(CGNL1):c.2470G>A (p.Val824Met)	CGNL1 (V824M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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