6485[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 1181666	NM_005560.6(LAMA5):c.*53C>T	LAMA5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1929763	NM_005560.6(LAMA5):c.11088G>T (p.Ter3696Tyr)	LAMA5	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2711901	NM_005560.6(LAMA5):c.11082C>T (p.Ala3694=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061071	NM_005560.6(LAMA5):c.11078C>T (p.Pro3693Leu)	LAMA5 (P3693L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2291692	NM_005560.6(LAMA5):c.11068A>G (p.Ser3690Gly)	LAMA5 (S3690G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787498	NM_005560.6(LAMA5):c.11067C>T (p.Ala3689=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 279828	NM_005560.6(LAMA5):c.11053G>A (p.Gly3685Arg)	LAMA5 (G3685R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3050290	NM_005560.6(LAMA5):c.11046G>A (p.Glu3682=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 1678199	NM_005560.6(LAMA5):c.11041G>C (p.Val3681Leu)	LAMA5 (V3681L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634386	NM_005560.6(LAMA5):c.11033C>G (p.Thr3678Ser)	LAMA5 (T3678S)	Single nucleotide variant (missense variant)	LAMA5-related disorder	GUncertain significance
Select item 1365364	NM_005560.6(LAMA5):c.11029A>G (p.Met3677Val)	LAMA5 (M3677V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472629	NM_005560.6(LAMA5):c.11026G>A (p.Ala3676Thr)	LAMA5 (A3676T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3060229	NM_005560.6(LAMA5):c.11025C>T (p.Val3675=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 2164307	NM_005560.6(LAMA5):c.11014C>T (p.Arg3672Trp)	LAMA5 (R3672W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2337333	NM_005560.6(LAMA5):c.11009T>C (p.Val3670Ala)	LAMA5 (V3670A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777608	NM_005560.6(LAMA5):c.11007G>A (p.Ala3669=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769100	NM_005560.6(LAMA5):c.10997G>A (p.Arg3666Lys)	LAMA5 (R3666K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2143075	NM_005560.6(LAMA5):c.10986C>T (p.Cys3662=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916477	NM_005560.6(LAMA5):c.10978G>A (p.Ala3660Thr)	LAMA5 (A3660T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2055486	NM_005560.6(LAMA5):c.10977C>T (p.Pro3659=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742053	NM_005560.6(LAMA5):c.10968C>T (p.Pro3656=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117498	NM_005560.6(LAMA5):c.10966C>T (p.Pro3656Ser)	LAMA5 (P3656S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513740	NM_005560.6(LAMA5):c.10960G>A (p.Val3654Met)	LAMA5 (V3654M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3059747	NM_005560.6(LAMA5):c.10959C>T (p.Ala3653=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 3117497	NM_005560.6(LAMA5):c.10951C>T (p.Pro3651Ser)	LAMA5 (P3651S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1907441	NM_005560.6(LAMA5):c.10949-12C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839212	NM_005560.6(LAMA5):c.10949-26_10949-20del	LAMA5	Deletion (intron variant)	not provided	GLikely benign
Select item 1226218	NM_005560.6(LAMA5):c.10949-120A>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2178488	NM_005560.6(LAMA5):c.10948+9G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714901	NM_005560.6(LAMA5):c.10948+8C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974067	NM_005560.6(LAMA5):c.10920A>G (p.Pro3640=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2294158	NM_005560.6(LAMA5):c.10919C>T (p.Pro3640Leu)	LAMA5 (P3640L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2853947	NM_005560.6(LAMA5):c.10917C>T (p.Ala3639=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521399	NM_005560.6(LAMA5):c.10901C>T (p.Ala3634Val)	LAMA5 (A3634V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1529449	NM_005560.6(LAMA5):c.10893C>T (p.Pro3631=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315061	NM_005560.6(LAMA5):c.10892C>T (p.Pro3631Leu)	LAMA5 (P3631L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921364	NM_005560.6(LAMA5):c.10885G>A (p.Val3629Met)	LAMA5 (V3629M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590089	NM_005560.6(LAMA5):c.10884C>T (p.Thr3628=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734031	NM_005560.6(LAMA5):c.10877A>G (p.Asn3626Ser)	LAMA5 (N3626S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715308	NM_005560.6(LAMA5):c.10869G>A (p.Ala3623=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774967	NM_005560.6(LAMA5):c.10868C>T (p.Ala3623Val)	LAMA5 (A3623V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2080959	NM_005560.6(LAMA5):c.10867G>A (p.Ala3623Thr)	LAMA5 (A3623T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2549670	NM_005560.6(LAMA5):c.10864G>C (p.Asp3622His)	LAMA5 (D3622H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593521	NM_005560.6(LAMA5):c.10862T>C (p.Val3621Ala)	LAMA5 (V3621A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652472	NM_005560.6(LAMA5):c.10860G>A (p.Glu3620=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925485	NM_005560.6(LAMA5):c.10852C>T (p.Arg3618Trp)	LAMA5 (R3618W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3117495	NM_005560.6(LAMA5):c.10843A>T (p.Asn3615Tyr)	LAMA5 (N3615Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781904	NM_005560.6(LAMA5):c.10840G>C (p.Gly3614Arg)	LAMA5 (G3614R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3342225	NM_005560.6(LAMA5):c.10839C>T (p.Ser3613=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3289986	NM_005560.6(LAMA5):c.10831A>T (p.Met3611Leu)	LAMA5 (M3611L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1551404	NM_005560.6(LAMA5):c.10829-19G>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3117494	NM_005560.6(LAMA5):c.10826C>T (p.Ala3609Val)	LAMA5 (A3609V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2722658	NM_005560.6(LAMA5):c.10825G>T (p.Ala3609Ser)	LAMA5 (A3609S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3036554	NM_005560.6(LAMA5):c.10820G>A (p.Arg3607Gln)	LAMA5 (R3607Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2620867	NM_005560.6(LAMA5):c.10819C>G (p.Arg3607Gly)	LAMA5 (R3607G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2907701	NM_005560.6(LAMA5):c.10808G>A (p.Gly3603Asp)	LAMA5 (G3603D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036709	NM_005560.6(LAMA5):c.10797G>A (p.Val3599=)	LAMA5	Single nucleotide variant (synonymous variant)	LAMA5-related disorder	GLikely benign
Select item 2390928	NM_005560.6(LAMA5):c.10787G>A (p.Arg3596His)	LAMA5 (R3596H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635134	NM_005560.6(LAMA5):c.10786C>G (p.Arg3596Gly)	LAMA5 (R3596G)	Single nucleotide variant (missense variant)	LAMA5-related disorder	GUncertain significance
Select item 756935	NM_005560.6(LAMA5):c.10770C>T (p.Phe3590=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632893	NM_005560.6(LAMA5):c.10756G>A (p.Gly3586Arg)	LAMA5 (G3586R)	Single nucleotide variant (missense variant)	LAMA5-related disorder	GUncertain significance
Select item 2154081	NM_005560.6(LAMA5):c.10755C>T (p.Asp3585=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038111	NM_005560.6(LAMA5):c.10753G>T (p.Asp3585Tyr)	LAMA5 (D3585Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2979159	NM_005560.6(LAMA5):c.10749G>A (p.Ala3583=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058882	NM_005560.6(LAMA5):c.10747G>A (p.Ala3583Thr)	LAMA5 (A3583T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047232	NM_005560.6(LAMA5):c.10745G>A (p.Arg3582Gln)	LAMA5 (R3582Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2636793	NM_005560.6(LAMA5):c.10744C>T (p.Arg3582Trp)	LAMA5 (R3582W)	Single nucleotide variant (missense variant)	LAMA5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 809261	NM_005560.6(LAMA5):c.10735-3_10735-2insCCCTTCCTACCCCT	LAMA5	Insertion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 3054793	NM_005560.6(LAMA5):c.10735-4C>A	LAMA5	Single nucleotide variant (intron variant)	LAMA5-related disorder	GLikely benign
Select item 1273801	NM_005560.6(LAMA5):c.10735-5G>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2628631	NM_005560.6(LAMA5):c.10735-6C>T	LAMA5	Single nucleotide variant (intron variant)	LAMA5-related disorder	GLikely benign
Select item 1895843	NM_005560.6(LAMA5):c.10735-12C>A	LAMA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919276	NM_005560.6(LAMA5):c.10735-14T>C	LAMA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900825	NM_005560.6(LAMA5):c.10734+20C>T	LAMA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 438605	NM_005560.6(LAMA5):c.10726G>A (p.Glu3576Lys)	LAMA5 (E3576K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2167210	NM_005560.6(LAMA5):c.10725C>T (p.Thr3575=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3251980	NM_005560.6(LAMA5):c.10703C>A (p.Pro3568His)	LAMA5 (P3568H)	Single nucleotide variant (missense variant)	Bent bone dysplasia syndrome 2	GUncertain significance
Select item 1936444	NM_005560.6(LAMA5):c.10701C>T (p.Pro3567=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159965	NM_005560.6(LAMA5):c.10699C>A (p.Pro3567Thr)	LAMA5 (P3567T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161799	NM_005560.6(LAMA5):c.10697C>T (p.Thr3566Met)	LAMA5 (T3566M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3117492	NM_005560.6(LAMA5):c.10694G>A (p.Arg3565Gln)	LAMA5 (R3565Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2060663	NM_005560.6(LAMA5):c.10693C>T (p.Arg3565Trp)	LAMA5 (R3565W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2154024	NM_005560.6(LAMA5):c.10688A>G (p.Gln3563Arg)	LAMA5 (Q3563R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2272977	NM_005560.6(LAMA5):c.10681T>G (p.Leu3561Val)	LAMA5 (L3561V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460606	NM_005560.6(LAMA5):c.10672A>C (p.Ile3558Leu)	LAMA5 (I3558L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1558714	NM_005560.6(LAMA5):c.10665C>T (p.Thr3555=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952706	NM_005560.6(LAMA5):c.10646T>C (p.Val3549Ala)	LAMA5 (V3549A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480583	NM_005560.6(LAMA5):c.10628T>C (p.Val3543Ala)	LAMA5 (V3543A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2090879	NM_005560.6(LAMA5):c.10628T>G (p.Val3543Gly)	LAMA5 (V3543G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705337	NM_005560.6(LAMA5):c.10626T>C (p.Asp3542=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618611	NM_005560.6(LAMA5):c.10617A>T (p.Thr3539=)	LAMA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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