4044[HGNC] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 57125	GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3	ATP6V1C1, AZIN1 +92 more	Copy number gain	See cases	GPathogenic
Select item 549616	NC_000008.10:g.104306192_104334440del28249	FZD6, LOC105369147 +2 more	Deletion	Primary amenorrhea	GUncertain significance
Select item 2540363	NM_003506.4(FZD6):c.43C>A (p.Leu15Ile)	FZD6 (L15I)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3039484	NM_003506.4(FZD6):c.46C>G (p.Leu16Val)	FZD6 (L16V)	Single nucleotide variant (missense variant +3 more)	FZD6-related disorder	GLikely benign
Select item 1285287	NM_003506.4(FZD6):c.97A>G (p.Met33Val)	FZD6 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	Nonsyndromic congenital nail disorder 1 +1 more	GBenign
Select item 3280300	NM_003506.4(FZD6):c.158T>G (p.Ile53Ser)	FZD6 (L5V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 3097688	NM_003506.4(FZD6):c.178C>T (p.His60Tyr)	FZD6 (H60Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280165	NM_003506.4(FZD6):c.218T>C (p.Ile73Thr)	FZD6 (I73T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547363	NM_003506.4(FZD6):c.263A>C (p.Gln88Pro)	FZD6 (Q88P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 499653	NM_003506.4(FZD6):c.286C>T (p.Arg96Cys)	FZD6 (R96C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2470716	NM_003506.4(FZD6):c.344T>G (p.Ile115Ser)	FZD6 (I115S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 438765	NM_003506.4(FZD6):c.346C>T (p.Arg116Ter)	FZD6 (R116* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 3051746	NM_003506.4(FZD6):c.374+8A>G	FZD6	Single nucleotide variant (intron variant)	FZD6-related disorder	GBenign
Select item 2559171	NM_003506.4(FZD6):c.388G>A (p.Asp130Asn)	FZD6 (D130N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286929	NM_003506.4(FZD6):c.390T>A (p.Asp130Glu)	FZD6 (D130E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3097691	NM_003506.4(FZD6):c.437C>T (p.Pro146Leu)	FZD6 (P114L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2526660	NM_003506.4(FZD6):c.466G>C (p.Asp156His)	FZD6 (D124H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3097692	NM_003506.4(FZD6):c.473G>T (p.Gly158Val)	FZD6 (G126V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2327020	NM_003506.4(FZD6):c.491A>G (p.His164Arg)	FZD6 (H164R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3280299	NM_003506.4(FZD6):c.505G>A (p.Gly169Arg)	FZD6 (G137R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211073	NM_003506.4(FZD6):c.560A>G (p.Asn187Ser)	FZD6 (N155S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2457160	NM_003506.4(FZD6):c.625T>G (p.Cys209Gly)	FZD6 (C177G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2249448	NM_003506.4(FZD6):c.635C>A (p.Ala212Glu)	FZD6 (A212E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3352932	NM_003506.4(FZD6):c.657T>C (p.Thr219=)	FZD6	Single nucleotide variant (synonymous variant +2 more)	FZD6-related disorder	GLikely benign
Select item 3097693	NM_003506.4(FZD6):c.740T>C (p.Met247Thr)	FZD6 (M215T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2541616	NM_003506.4(FZD6):c.782A>G (p.Asn261Ser)	FZD6 (N229S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2284650	NM_003506.4(FZD6):c.787G>A (p.Ala263Thr)	FZD6 (A231T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2334413	NM_003506.4(FZD6):c.861G>A (p.Met287Ile)	FZD6 (M255I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 190461	NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)	FZD6 (Y258C +1 more)	Single nucleotide variant (missense variant +2 more)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 3040907	NM_003506.4(FZD6):c.960C>T (p.Ile320=)	FZD6	Single nucleotide variant (synonymous variant +1 more)	FZD6-related disorder	GLikely benign
Select item 3097685	NM_003506.4(FZD6):c.1022T>G (p.Met341Arg)	FZD6 (M36R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3280301	NM_003506.4(FZD6):c.1023G>T (p.Met341Ile)	FZD6 (M309I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 802432	NM_003506.4(FZD6):c.1214G>A (p.Arg405Gln)	FZD6 (R100Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2621120	NM_003506.4(FZD6):c.1219C>G (p.Gln407Glu)	FZD6 (Q102E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050918	NM_003506.4(FZD6):c.1272T>C (p.Tyr424=)	FZD6	Single nucleotide variant (synonymous variant +1 more)	FZD6-related disorder	GBenign
Select item 3097686	NM_003506.4(FZD6):c.1306G>C (p.Val436Leu)	FZD6 (V404L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 827759	NM_003506.4(FZD6):c.1312G>A (p.Glu438Lys)	FZD6 (E438K +2 more)	Single nucleotide variant (missense variant +1 more)	Nonsyndromic congenital nail disorder 1	GPathogenic
Select item 3097687	NM_003506.4(FZD6):c.1348G>A (p.Val450Ile)	FZD6 (V450I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609168	NM_003506.4(FZD6):c.1378C>T (p.Pro460Ser)	FZD6 (P155S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 993016	NM_003506.4(FZD6):c.1393-2A>G	FZD6	Single nucleotide variant (splice acceptor variant)	Nonsyndromic congenital nail disorder 1	GLikely pathogenic
Select item 2559776	NM_003506.4(FZD6):c.1480G>T (p.Val494Phe)	FZD6 (V462F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 827757	NM_003506.4(FZD6):c.1525C>T (p.Arg509Ter)	FZD6 (R509* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic congenital nail disorder 1	GPathogenic
Select item 30356	NM_003506.4(FZD6):c.1531C>T (p.Arg511Cys)	FZD6 (R511C +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic congenital nail disorder 1 +1 more	GPathogenic
Select item 2376437	NM_003506.4(FZD6):c.1596G>T (p.Lys532Asn)	FZD6 (K227N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299720	NM_003506.4(FZD6):c.1694C>T (p.Thr565Ile)	FZD6 (T260I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 30355	NM_003506.4(FZD6):c.1750G>T (p.Glu584Ter)	FZD6 (E584* +2 more)	Single nucleotide variant (nonsense +1 more)	Nonsyndromic congenital nail disorder 1 +1 more	GPathogenic
Select item 3054664	NM_003506.4(FZD6):c.1797G>A (p.Glu599=)	FZD6	Single nucleotide variant (synonymous variant +1 more)	FZD6-related disorder	GLikely benign
Select item 3051907	NM_003506.4(FZD6):c.1809C>T (p.Asp603=)	FZD6	Single nucleotide variant (synonymous variant +1 more)	FZD6-related disorder	GLikely benign
Select item 2617641	NM_003506.4(FZD6):c.1900G>A (p.Asp634Asn)	FZD6 (D329N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2604494	NM_003506.4(FZD6):c.1934G>A (p.Ser645Asn)	FZD6 (S613N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294005	NM_003506.4(FZD6):c.1936G>A (p.Ala646Thr)	FZD6 (A341T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097689	NM_003506.4(FZD6):c.1937C>T (p.Ala646Val)	FZD6 (A646V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334763	NM_003506.4(FZD6):c.1939C>T (p.Arg647Trp)	FZD6 (R342W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3097690	NM_003506.4(FZD6):c.2035A>G (p.Ser679Gly)	FZD6 (S679G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3046347	NM_003506.4(FZD6):c.*24G>A	FZD6	Single nucleotide variant (3 prime UTR variant +1 more)	FZD6-related disorder	GLikely benign
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684550	GRCh37/hg19 8q22.3(chr8:104054189-105048015)x3	ATP6V1C1, BAALC +5 more	Copy number gain	not provided	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527458	GRCh37/hg19 8q22.3(chr8:103969554-104480106)x3	SLC25A32, CTHRC1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, ATP6V1C1 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563493	GRCh37/hg19 8q22.3(chr8:104221791-104770147)x3	DCAF13, CTHRC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 98