18143[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 178

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 144731	GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3	DAAM2, DAAM2-AS1 +23 more	Copy number gain	See cases	GLikely benign
Select item 3270755	NM_001201427.2(DAAM2):c.7C>T (p.Pro3Ser)	DAAM2 (P3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3036664	NM_001201427.2(DAAM2):c.11G>A (p.Arg4His)	DAAM2 (R4H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2596705	NM_001201427.2(DAAM2):c.11G>T (p.Arg4Leu)	DAAM2 (R4L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079860	NM_001201427.2(DAAM2):c.20G>A (p.Ser7Asn)	DAAM2 (S7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060337	NM_001201427.2(DAAM2):c.27T>C (p.His9=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GBenign
Select item 3053048	NM_001201427.2(DAAM2):c.51C>T (p.Phe17=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GBenign
Select item 771395	NM_001201427.2(DAAM2):c.52G>A (p.Gly18Arg)	DAAM2 (G18R)	Single nucleotide variant (missense variant)	DAAM2-related disorder +1 more	GBenign/Likely benign
Select item 3079873	NM_001201427.2(DAAM2):c.82C>T (p.Arg28Trp)	DAAM2 (R28W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037122	NM_001201427.2(DAAM2):c.129G>A (p.Pro43=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 3032413	NM_001201427.2(DAAM2):c.132C>T (p.Asn44=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 2330532	NM_001201427.2(DAAM2):c.208T>C (p.Phe70Leu)	DAAM2 (F70L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582327	NM_001201427.2(DAAM2):c.220C>A (p.Pro74Thr)	DAAM2 (P74T)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 24 +1 more	GUncertain significance
Select item 809929	NM_001201427.2(DAAM2):c.272C>T (p.Pro91Leu)	DAAM2 (P91L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2402432	NM_001201427.2(DAAM2):c.313C>T (p.Arg105Cys)	DAAM2 (R105C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039055	NM_001201427.2(DAAM2):c.314G>A (p.Arg105His)	DAAM2 (R105H)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GBenign
Select item 1054666	NM_001201427.2(DAAM2):c.361G>C (p.Glu121Gln)	DAAM2 (E121Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 24	GPathogenic
Select item 2322034	NM_001201427.2(DAAM2):c.412C>T (p.Arg138Trp)	DAAM2 (R138W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079871	NM_001201427.2(DAAM2):c.413G>A (p.Arg138Gln)	DAAM2 (R138Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783753	NM_001201427.2(DAAM2):c.429-10T>C	DAAM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2615758	NM_001201427.2(DAAM2):c.506G>C (p.Cys169Ser)	DAAM2 (C169S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457770	NM_001201427.2(DAAM2):c.514C>T (p.Arg172Cys)	DAAM2 (R172C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039245	NM_001201427.2(DAAM2):c.515G>A (p.Arg172His)	DAAM2 (R172H)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GBenign
Select item 2386126	NM_001201427.2(DAAM2):c.592C>T (p.Pro198Ser)	DAAM2 (P198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079872	NM_001201427.2(DAAM2):c.625C>G (p.Arg209Gly)	DAAM2 (R209G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270762	NM_001201427.2(DAAM2):c.699C>G (p.His233Gln)	DAAM2 (H233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038169	NM_001201427.2(DAAM2):c.733G>C (p.Val245Leu)	DAAM2 (V245L)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GBenign
Select item 2599122	NM_001201427.2(DAAM2):c.740C>T (p.Ala247Val)	DAAM2 (A247V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328247	NM_001201427.2(DAAM2):c.754C>T (p.Arg252Cys)	DAAM2 (R252C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056284	NM_001201427.2(DAAM2):c.774C>T (p.Asn258=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GBenign
Select item 2267156	NM_001201427.2(DAAM2):c.784C>G (p.Arg262Gly)	DAAM2 (R262G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275295	NM_001201427.2(DAAM2):c.797G>A (p.Arg266Gln)	DAAM2 (R266Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042784	NM_001201427.2(DAAM2):c.836C>T (p.Ser279Phe)	DAAM2 (S279F)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GLikely benign
Select item 2619402	NM_001201427.2(DAAM2):c.955C>T (p.His319Tyr)	DAAM2 (H319Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032377	NM_001201427.2(DAAM2):c.993C>T (p.Phe331=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 1705482	NM_001201427.2(DAAM2):c.1003C>T (p.Arg335Trp)	DAAM2 (R335W)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 24	GUncertain significance
Select item 1054669	NM_001201427.2(DAAM2):c.1004G>A (p.Arg335Gln)	DAAM2 (R335Q)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 24	GPathogenic
Select item 2361794	NM_001201427.2(DAAM2):c.1042A>G (p.Met348Val)	DAAM2 (M348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250682	NM_001201427.2(DAAM2):c.1174G>C (p.Gly392Arg)	DAAM2 (G392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044733	NM_001201427.2(DAAM2):c.1203G>A (p.Leu401=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 2308068	NM_001201427.2(DAAM2):c.1210A>G (p.Ile404Val)	DAAM2 (I404V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547832	NM_001201427.2(DAAM2):c.1236T>G (p.Asp412Glu)	DAAM2 (D412E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079853	NM_001201427.2(DAAM2):c.1237G>A (p.Glu413Lys)	DAAM2 (E413K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079854	NM_001201427.2(DAAM2):c.1255G>C (p.Asp419His)	DAAM2 (D419H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599979	NM_001201427.2(DAAM2):c.1294G>A (p.Val432Ile)	DAAM2 (V432I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1054670	NM_001201427.2(DAAM2):c.1333C>T (p.Arg445Ter)	DAAM2 (R445*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 24	GPathogenic
Select item 3035230	NM_001201427.2(DAAM2):c.1339C>G (p.Gln447Glu)	DAAM2 (Q447E)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GLikely benign
Select item 2361749	NM_001201427.2(DAAM2):c.1368G>A (p.Met456Ile)	DAAM2 (M456I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270757	NM_001201427.2(DAAM2):c.1372C>T (p.Leu458Phe)	DAAM2 (L458F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252411	NM_001201427.2(DAAM2):c.1397A>G (p.Glu466Gly)	DAAM2 (E466G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079856	NM_001201427.2(DAAM2):c.1445C>T (p.Thr482Met)	DAAM2 (T482M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270758	NM_001201427.2(DAAM2):c.1487A>G (p.Glu496Gly)	DAAM2 (E496G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270764	NM_001201427.2(DAAM2):c.1497G>C (p.Gln499His)	DAAM2 (Q499H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079857	NM_001201427.2(DAAM2):c.1502G>A (p.Arg501Gln)	DAAM2 (R501Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407195	NM_001201427.2(DAAM2):c.1559C>T (p.Ser520Phe)	DAAM2 (S520F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221078	NM_001201427.2(DAAM2):c.1564C>T (p.Pro522Ser)	DAAM2 (P522S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033058	NM_001201427.2(DAAM2):c.1581C>T (p.Gly527=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 3079858	NM_001201427.2(DAAM2):c.1628C>T (p.Pro543Leu)	DAAM2 (P543L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079859	NM_001201427.2(DAAM2):c.1643C>T (p.Pro548Leu)	DAAM2 (P548L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042638	NM_001201427.2(DAAM2):c.1664C>T (p.Pro555Leu)	DAAM2 (P555L)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GLikely benign
Select item 3040680	NM_001201427.2(DAAM2):c.1668A>C (p.Pro556=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 773939	NM_001201427.2(DAAM2):c.1718C>T (p.Pro573Leu)	DAAM2 (P573L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3050344	NM_001201427.2(DAAM2):c.1735C>T (p.Leu579=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 1054668	NM_001201427.2(DAAM2):c.1745C>A (p.Pro582His)	DAAM2 (P582H)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GLikely benign
Select item 2224436	NM_001201427.2(DAAM2):c.1789C>T (p.Arg597Cys)	DAAM2 (R597C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3034820	NM_001201427.2(DAAM2):c.1790G>A (p.Arg597His)	DAAM2 (R597H)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GBenign
Select item 2399325	NM_001201427.2(DAAM2):c.1790G>C (p.Arg597Pro)	DAAM2 (R597P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3033562	NM_001201427.2(DAAM2):c.1799A>G (p.Gln600Arg)	DAAM2 (Q600R)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GBenign
Select item 2485395	NM_001201427.2(DAAM2):c.1810C>T (p.Pro604Ser)	DAAM2 (P604S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057291	NM_001201427.2(DAAM2):c.1845+7A>G	DAAM2	Single nucleotide variant (intron variant)	DAAM2-related disorder	GLikely benign
Select item 3050309	NM_001201427.2(DAAM2):c.1850G>A (p.Arg617His)	DAAM2 (R617H)	Single nucleotide variant (missense variant)	DAAM2-related disorder	GBenign
Select item 3270756	NM_001201427.2(DAAM2):c.1898G>A (p.Arg633Gln)	DAAM2 (R633Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037577	NM_001201427.2(DAAM2):c.1899G>T (p.Arg633=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GLikely benign
Select item 3059768	NM_001201427.2(DAAM2):c.1926G>A (p.Lys642=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GBenign
Select item 3060515	NM_001201427.2(DAAM2):c.1980C>A (p.Ile660=)	DAAM2	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GBenign
Select item 2241639	NM_001201427.2(DAAM2):c.2026C>T (p.Arg676Trp)	DAAM2 (R676W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213420	NM_001201427.2(DAAM2):c.2087G>A (p.Arg696Gln)	DAAM2, LOC126859670 (R696Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046022	NM_001201427.2(DAAM2):c.2095A>G (p.Ile699Val)	DAAM2, LOC126859670 (I699V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2254143	NM_001201427.2(DAAM2):c.2100G>C (p.Leu700Phe)	DAAM2, LOC126859670 (L700F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079861	NM_001201427.2(DAAM2):c.2140G>C (p.Glu714Gln)	DAAM2, LOC126859670 (E714Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582404	NM_001201427.2(DAAM2):c.2203G>A (p.Glu735Lys)	DAAM2, DAAM2-AS1 (E735K)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 24	GUncertain significance
Select item 2519736	NM_001201427.2(DAAM2):c.2222G>A (p.Arg741His)	DAAM2, DAAM2-AS1 (R741H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044201	NM_001201427.2(DAAM2):c.2258A>G (p.Asp753Gly)	DAAM2, DAAM2-AS1 (D753G)	Single nucleotide variant (non-coding transcript variant +1 more)	DAAM2-related disorder	GLikely benign
Select item 2582484	NM_001201427.2(DAAM2):c.2279A>G (p.Gln760Arg)	DAAM2, DAAM2-AS1 (Q760R)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephrotic syndrome, type 24	GUncertain significance
Select item 2606028	NM_001201427.2(DAAM2):c.2323G>C (p.Ala775Pro)	DAAM2, DAAM2-AS1 (A775P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050220	NM_001201427.2(DAAM2):c.2327A>C (p.Lys776Thr)	DAAM2, DAAM2-AS1 (K776T)	Single nucleotide variant (non-coding transcript variant +1 more)	DAAM2-related disorder	GLikely benign
Select item 3042452	NM_001201427.2(DAAM2):c.2342-10C>T	DAAM2, DAAM2-AS1	Single nucleotide variant (intron variant)	DAAM2-related disorder	GLikely benign
Select item 2327549	NM_001201427.2(DAAM2):c.2372G>A (p.Arg791His)	DAAM2, DAAM2-AS1 (R791H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351935	NM_001201427.2(DAAM2):c.2380C>T (p.Arg794Cys)	DAAM2, DAAM2-AS1 (R794C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554664	NM_001201427.2(DAAM2):c.2446G>A (p.Gly816Ser)	DAAM2, DAAM2-AS1 (G816S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276348	NM_001201427.2(DAAM2):c.2473C>T (p.Leu825Phe)	DAAM2, DAAM2-AS1 (L825F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3059968	NM_001201427.2(DAAM2):c.2484C>T (p.Ile828=)	DAAM2, DAAM2-AS1	Single nucleotide variant (synonymous variant)	DAAM2-related disorder	GBenign
Select item 2622497	NM_001201427.2(DAAM2):c.2491A>G (p.Thr831Ala)	DAAM2, DAAM2-AS1 (T831A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780622	NM_001201427.2(DAAM2):c.2510+8C>T	DAAM2, DAAM2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2320777	NM_001201427.2(DAAM2):c.2512A>C (p.Asn838His)	DAAM2, DAAM2-AS1 (N838H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038271	NM_001201427.2(DAAM2):c.2567T>C (p.Ile856Thr)	DAAM2, DAAM2-AS1 (I856T)	Single nucleotide variant (non-coding transcript variant +1 more)	DAAM2-related disorder	GLikely benign
Select item 3079862	NM_001201427.2(DAAM2):c.2578C>T (p.Pro860Ser)	DAAM2, DAAM2-AS1 (P860S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533016	NM_001201427.2(DAAM2):c.2578C>G (p.Pro860Ala)	DAAM2, DAAM2-AS1 (P860A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2