10095[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 827686	NC_000007.14:g.99369754_99378887del	LOC129998866, LOC129998867 +2 more	Deletion (genic upstream transcript variant)	Combined immunodeficiency	GPathogenic
Select item 1630688	NM_005720.4(ARPC1B):c.12C>T (p.His4=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657719	NM_005720.4(ARPC1B):c.33C>T (p.Ile11=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2310577	NM_005720.4(ARPC1B):c.39C>G (p.Cys13Trp)	ARPC1B (C13W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2984556	NM_005720.4(ARPC1B):c.42C>T (p.His14=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464016	NM_005720.4(ARPC1B):c.51C>G (p.Asn17Lys)	ARPC1B (N17K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1416166	NM_005720.4(ARPC1B):c.52A>C (p.Lys18Gln)	ARPC1B (K18Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1497895	NM_005720.4(ARPC1B):c.58C>T (p.Arg20Cys)	ARPC1B (R20C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515116	NM_005720.4(ARPC1B):c.59G>A (p.Arg20His)	ARPC1B (R20H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467855	NM_005720.4(ARPC1B):c.61A>G (p.Thr21Ala)	ARPC1B (T21A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060877	NM_005720.4(ARPC1B):c.64+4_64+24del	ARPC1B	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 974767	NM_005720.4(ARPC1B):c.64+1G>C	ARPC1B	Single nucleotide variant (splice donor variant)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	GPathogenic
Select item 624614	NM_005720.4(ARPC1B):c.64+1G>A	ARPC1B	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 624587	NM_005720.4(ARPC1B):c.64+1G>A	ARPC1B	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2418950	NM_005720.4(ARPC1B):c.64+2T>A	ARPC1B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1168795	NM_005720.4(ARPC1B):c.64+20C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2801442	NM_005720.4(ARPC1B):c.65-15C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668283	NM_005720.4(ARPC1B):c.65-9C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092847	NM_005720.4(ARPC1B):c.65-7C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1355842	NM_005720.4(ARPC1B):c.66G>T (p.Gln22His)	ARPC1B (Q22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934012	NM_005720.4(ARPC1B):c.77G>C (p.Cys26Ser)	ARPC1B (C26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2529491	NM_005720.4(ARPC1B):c.94G>A (p.Val32Met)	ARPC1B (V32M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1631091	NM_005720.4(ARPC1B):c.96G>A (p.Val32=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769728	NM_005720.4(ARPC1B):c.98A>G (p.His33Arg)	ARPC1B (H33R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1170233	NM_005720.4(ARPC1B):c.111G>C (p.Lys37Asn)	ARPC1B (K37N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1622175	NM_005720.4(ARPC1B):c.114C>T (p.Ser38=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386167	NM_005720.4(ARPC1B):c.115G>A (p.Gly39Ser)	ARPC1B (G39S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1492360	NM_005720.4(ARPC1B):c.133G>A (p.Val45Met)	ARPC1B (V45M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127341	NM_005720.4(ARPC1B):c.138C>G (p.His46Gln)	ARPC1B (H46Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608006	NM_005720.4(ARPC1B):c.138C>T (p.His46=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956243	NM_005720.4(ARPC1B):c.139G>A (p.Glu47Lys)	ARPC1B (E47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955799	NM_005720.4(ARPC1B):c.153C>T (p.His51=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170234	NM_005720.4(ARPC1B):c.156C>T (p.Asn52=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1897843	NM_005720.4(ARPC1B):c.163G>A (p.Val55Met)	ARPC1B (V55M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356174	NM_005720.4(ARPC1B):c.169+4T>C	ARPC1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1644094	NM_005720.4(ARPC1B):c.169+10G>A	ARPC1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2071620	NM_005720.4(ARPC1B):c.170-16del	ARPC1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1537718	NM_005720.4(ARPC1B):c.170-17C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652472	NM_005720.4(ARPC1B):c.170-9C>G	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550734	NM_005720.4(ARPC1B):c.170-8C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970372	NM_005720.4(ARPC1B):c.170-6C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924461	NM_005720.4(ARPC1B):c.170-5C>A	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1383963	NM_005720.4(ARPC1B):c.170-3C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1533090	NM_005720.4(ARPC1B):c.174C>T (p.Ile58=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1985816	NM_005720.4(ARPC1B):c.177C>A (p.Asp59Glu)	ARPC1B (D59E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068072	NM_005720.4(ARPC1B):c.180G>A (p.Trp60Ter)	ARPC1B (W60*)	Single nucleotide variant (nonsense)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	GUncertain significance
Select item 1927911	NM_005720.4(ARPC1B):c.186C>T (p.Pro62=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062865	NM_005720.4(ARPC1B):c.187G>A (p.Glu63Lys)	ARPC1B (E63K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106856	NM_005720.4(ARPC1B):c.190A>G (p.Ser64Gly)	ARPC1B (S64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444350	NM_005720.4(ARPC1B):c.195C>G (p.Asn65Lys)	ARPC1B (N65K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415985	NM_005720.4(ARPC1B):c.196C>T (p.Arg66Cys)	ARPC1B (R66C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420727	NM_005720.4(ARPC1B):c.197G>A (p.Arg66His)	ARPC1B (R66H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045125	NM_005720.4(ARPC1B):c.200T>C (p.Ile67Thr)	ARPC1B (I67T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870425	NM_005720.4(ARPC1B):c.201T>C (p.Ile67=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934374	NM_005720.4(ARPC1B):c.210C>T (p.Cys70=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478632	NM_005720.4(ARPC1B):c.214A>G (p.Thr72Ala)	ARPC1B (T72A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572541	NM_005720.4(ARPC1B):c.219C>T (p.Asp73=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559682	NM_005720.4(ARPC1B):c.225C>T (p.Asn75=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601479	NM_005720.4(ARPC1B):c.231C>T (p.Tyr77=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1455080	NM_005720.4(ARPC1B):c.231C>A (p.Tyr77Ter)	ARPC1B (Y77*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2335327	NM_005720.4(ARPC1B):c.239C>A (p.Thr80Lys)	ARPC1B (T80K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1429397	NM_005720.4(ARPC1B):c.239C>T (p.Thr80Met)	ARPC1B (T80M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567040	NM_005720.4(ARPC1B):c.240G>A (p.Thr80=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019197	NM_005720.4(ARPC1B):c.242_247del (p.Leu81_Gly83delinsArg)	ARPC1B	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1395196	NM_005720.4(ARPC1B):c.250C>T (p.Arg84Cys)	ARPC1B (R84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649933	NM_005720.4(ARPC1B):c.255A>G (p.Thr85=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799445	NM_005720.4(ARPC1B):c.258del (p.Thr85_Trp86insTer)	ARPC1B	Deletion (nonsense)	not provided	GPathogenic
Select item 1368237	NM_005720.4(ARPC1B):c.266C>T (p.Thr89Met)	ARPC1B (T89M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1560097	NM_005720.4(ARPC1B):c.267G>A (p.Thr89=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444877	NM_005720.4(ARPC1B):c.268_269dup (p.Val91fs)	ARPC1B (V91fs)	Duplication (frameshift variant)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	GPathogenic
Select item 3315942	NM_005720.4(ARPC1B):c.272T>C (p.Val91Ala)	ARPC1B (V91A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1574554	NM_005720.4(ARPC1B):c.276C>T (p.Ile92=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963135	NM_005720.4(ARPC1B):c.285C>G (p.Ile95Met)	ARPC1B (I95M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577120	NM_005720.4(ARPC1B):c.287A>G (p.Asn96Ser)	ARPC1B (N96S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1519181	NM_005720.4(ARPC1B):c.296C>T (p.Ala99Val)	ARPC1B (A99V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345974	NM_005720.4(ARPC1B):c.299G>A (p.Arg100His)	ARPC1B (R100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2202007	NM_005720.4(ARPC1B):c.303C>T (p.Cys101=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 988854	NM_005720.4(ARPC1B):c.308G>A (p.Arg103His)	ARPC1B (R103H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1695198	NM_005720.4(ARPC1B):c.311G>C (p.Trp104Ser)	ARPC1B (W104S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1476005	NM_005720.4(ARPC1B):c.313G>T (p.Ala105Ser)	ARPC1B (A105S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 444878	NM_005720.4(ARPC1B):c.314C>T (p.Ala105Val)	ARPC1B (A105V)	Single nucleotide variant (missense variant)	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	GPathogenic
Select item 1639149	NM_005720.4(ARPC1B):c.321C>T (p.Asn107=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183197	NM_005720.4(ARPC1B):c.322G>A (p.Glu108Lys)	ARPC1B (E108K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872395	NM_005720.4(ARPC1B):c.323del (p.Glu108fs)	ARPC1B (E108fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1439764	NM_005720.4(ARPC1B):c.327C>G (p.Asn109Lys)	ARPC1B (N109K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1170317	NM_005720.4(ARPC1B):c.339G>A (p.Val113=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1529488	NM_005720.4(ARPC1B):c.345C>T (p.Ser115=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488603	NM_005720.4(ARPC1B):c.346G>A (p.Gly116Ser)	ARPC1B (G116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419460	NM_005720.4(ARPC1B):c.357G>C (p.Val119=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769895	NM_005720.4(ARPC1B):c.384G>C (p.Glu128Asp)	ARPC1B (E128D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907374	NM_005720.4(ARPC1B):c.392+2T>C	ARPC1B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1642728	NM_005720.4(ARPC1B):c.392+7A>G	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705615	NM_005720.4(ARPC1B):c.392+8C>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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