ClinVar for Gene (Select 64760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278816	NM_022749.7(FHIP2B):c.1232A>G (p.Glu411Gly)	FHIP2B (E353G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278815	NM_022749.7(FHIP2B):c.1828C>G (p.Arg610Gly)	FHIP2B (R610G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278814	NM_022749.7(FHIP2B):c.668A>G (p.Gln223Arg)	FHIP2B (Q223R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278813	NM_022749.7(FHIP2B):c.1970G>C (p.Ser657Thr)	FHIP2B (S657T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278811	NM_022749.7(FHIP2B):c.999C>G (p.Phe333Leu)	FHIP2B (F332L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278810	NM_022749.7(FHIP2B):c.1205A>C (p.Gln402Pro)	FHIP2B (Q344P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278809	NM_022749.7(FHIP2B):c.1955C>T (p.Ala652Val)	FHIP2B (A594V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095082	NM_022749.7(FHIP2B):c.986A>C (p.Asp329Ala)	FHIP2B (D329A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095081	NM_022749.7(FHIP2B):c.905G>A (p.Arg302Gln)	FHIP2B (R244Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3095080	NM_022749.7(FHIP2B):c.757T>A (p.Cys253Ser)	FHIP2B (C195S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095079	NM_022749.7(FHIP2B):c.712G>T (p.Gly238Cys)	FHIP2B (G180C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095078	NM_022749.7(FHIP2B):c.625G>A (p.Ala209Thr)	FHIP2B (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095077	NM_022749.7(FHIP2B):c.545G>C (p.Arg182Thr)	FHIP2B (R182T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095076	NM_022749.7(FHIP2B):c.491A>G (p.Gln164Arg)	FHIP2B (Q106R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095075	NM_022749.7(FHIP2B):c.470C>T (p.Thr157Ile)	FHIP2B (T157I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095074	NM_022749.7(FHIP2B):c.40G>C (p.Gly14Arg)	FHIP2B (G14R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095073	NM_022749.7(FHIP2B):c.307G>A (p.Gly103Ser)	FHIP2B (G103S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095072	NM_022749.7(FHIP2B):c.295G>A (p.Glu99Lys)	FHIP2B (E41K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095071	NM_022749.7(FHIP2B):c.281C>T (p.Thr94Met)	FHIP2B (T94M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095070	NM_022749.7(FHIP2B):c.221G>A (p.Gly74Asp)	FHIP2B (G74D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095069	NM_022749.7(FHIP2B):c.2203G>A (p.Val735Ile)	FHIP2B (V677I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095068	NM_022749.7(FHIP2B):c.2183C>A (p.Pro728Gln)	FHIP2B (P728Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095067	NM_022749.7(FHIP2B):c.2122G>A (p.Val708Met)	FHIP2B (V650M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095066	NM_022749.7(FHIP2B):c.2059C>T (p.Arg687Cys)	FHIP2B (R629C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095065	NM_022749.7(FHIP2B):c.2020C>G (p.Gln674Glu)	FHIP2B (Q616E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095063	NM_022749.7(FHIP2B):c.2002G>C (p.Asp668His)	FHIP2B (D668H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095062	NM_022749.7(FHIP2B):c.194A>G (p.Tyr65Cys)	FHIP2B (Y65C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095061	NM_022749.7(FHIP2B):c.1832T>A (p.Met611Lys)	FHIP2B (M611K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095060	NM_022749.7(FHIP2B):c.1822T>C (p.Phe608Leu)	FHIP2B (F550L +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3095059	NM_022749.7(FHIP2B):c.1805A>G (p.His602Arg)	FHIP2B (H544R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095058	NM_022749.7(FHIP2B):c.1732G>A (p.Ala578Thr)	FHIP2B (A577T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095057	NM_022749.7(FHIP2B):c.1726C>T (p.Arg576Cys)	FHIP2B (R576C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095056	NM_022749.7(FHIP2B):c.16G>C (p.Gly6Arg)	FHIP2B (G6R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095055	NM_022749.7(FHIP2B):c.1693G>A (p.Asp565Asn)	FHIP2B (D507N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095054	NM_022749.7(FHIP2B):c.1620C>G (p.Phe540Leu)	FHIP2B (F482L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095053	NM_022749.7(FHIP2B):c.1619T>A (p.Phe540Tyr)	FHIP2B (F482Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095052	NM_022749.7(FHIP2B):c.1508A>G (p.Tyr503Cys)	FHIP2B (Y445C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095051	NM_022749.7(FHIP2B):c.136C>T (p.Pro46Ser)	FHIP2B (P46S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3095050	NM_022749.7(FHIP2B):c.1328A>G (p.His443Arg)	FHIP2B (H442R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095049	NM_022749.7(FHIP2B):c.1315G>A (p.Gly439Arg)	FHIP2B (G381R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3095048	NM_022749.7(FHIP2B):c.1276C>T (p.Pro426Ser)	FHIP2B (P368S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095047	NM_022749.7(FHIP2B):c.1229G>A (p.Arg410Gln)	FHIP2B (R409Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3095046	NM_022749.7(FHIP2B):c.1211G>A (p.Arg404His)	FHIP2B (R403H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095045	NM_022749.7(FHIP2B):c.1201C>T (p.Arg401Cys)	FHIP2B (R400C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095044	NM_022749.7(FHIP2B):c.1150G>A (p.Val384Met)	FHIP2B (V326M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095043	NM_022749.7(FHIP2B):c.1149C>A (p.His383Gln)	FHIP2B (H383Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095042	NM_022749.7(FHIP2B):c.1136C>T (p.Pro379Leu)	FHIP2B (P378L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3095041	NM_022749.7(FHIP2B):c.105C>G (p.His35Gln)	FHIP2B (H35Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
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 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2658463	NM_022749.7(FHIP2B):c.1892G>A (p.Arg631Gln)	FHIP2B (R573Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2621119	NM_022749.7(FHIP2B):c.1220C>T (p.Ala407Val)	FHIP2B (A407V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604355	NM_022749.7(FHIP2B):c.1351A>G (p.Thr451Ala)	FHIP2B (T450A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2597265	NM_022749.7(FHIP2B):c.1316G>A (p.Gly439Glu)	FHIP2B (G381E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588744	NM_022749.7(FHIP2B):c.1729G>A (p.Val577Ile)	FHIP2B (V577I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2569926	NM_022749.7(FHIP2B):c.1727G>T (p.Arg576Leu)	FHIP2B (R518L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554542	NM_022749.7(FHIP2B):c.1960G>A (p.Gly654Ser)	FHIP2B (G596S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544756	NM_022749.7(FHIP2B):c.2149G>A (p.Glu717Lys)	FHIP2B (E717K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538142	NM_022749.7(FHIP2B):c.1555C>T (p.Pro519Ser)	FHIP2B (P461S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522406	NM_022749.7(FHIP2B):c.433G>A (p.Gly145Arg)	FHIP2B (G145R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518181	NM_022749.7(FHIP2B):c.511G>A (p.Ala171Thr)	FHIP2B (A171T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 2480070	NM_022749.7(FHIP2B):c.1327C>T (p.His443Tyr)	FHIP2B (H442Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471048	NM_022749.7(FHIP2B):c.1814G>A (p.Arg605Gln)	FHIP2B (R604Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2466570	NM_022749.7(FHIP2B):c.472G>A (p.Val158Ile)	FHIP2B (V100I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460906	NM_022749.7(FHIP2B):c.2051T>G (p.Leu684Arg)	FHIP2B (L626R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527423	GRCh37/hg19 8p21.3(chr8:21303187-22230498)	BMP1, DMTN +16 more	Copy number gain	not specified	GUncertain significance
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
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 686571	GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	BIN3, BMP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 686077	GRCh37/hg19 8p21.3(chr8:21840451-22037635)x3	BMP1, DMTN +9 more	Copy number gain	not provided	GUncertain significance
Select item 685557	GRCh37/hg19 8p21.3(chr8:21077580-22144930)x1	BMP1, DMTN +15 more	Copy number loss	not provided	GUncertain significance
Select item 685405	GRCh37/hg19 8p21.3(chr8:21717395-22395625)x3	BMP1, DMTN +16 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 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 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic

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