FRZB[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 5220	NM_001463.4(FRZB):c.970C>G (p.Arg324Gly)	FRZB (R324G)	Single nucleotide variant (missense variant)	FRZB-related disorder	GBenign
Select item 774292	NM_001463.4(FRZB):c.906T>C (p.Asp302=)	FRZB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2359174	NM_001463.4(FRZB):c.881G>A (p.Arg294His)	FRZB (R294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774293	NM_001463.4(FRZB):c.872T>C (p.Met291Thr)	FRZB (M291T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 719233	NM_001463.4(FRZB):c.861+6C>A	FRZB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2374058	NM_001463.4(FRZB):c.847G>A (p.Gly283Ser)	FRZB (G283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475348	NM_001463.4(FRZB):c.815G>C (p.Gly272Ala)	FRZB (G272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345739	NM_001463.4(FRZB):c.791G>A (p.Arg264His)	FRZB (R264H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461729	NM_001463.4(FRZB):c.790C>T (p.Arg264Cys)	FRZB (R264C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394488	NM_001463.4(FRZB):c.787G>A (p.Glu263Lys)	FRZB (E263K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039181	NM_001463.4(FRZB):c.753T>C (p.Asn251=)	FRZB	Single nucleotide variant (synonymous variant)	FRZB-related disorder	GLikely benign
Select item 3279992	NM_001463.4(FRZB):c.752A>G (p.Asn251Ser)	FRZB (N251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463711	NM_001463.4(FRZB):c.715A>G (p.Thr239Ala)	FRZB (T239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513148	NM_001463.4(FRZB):c.707A>G (p.Asn236Ser)	FRZB (N236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522815	NM_001463.4(FRZB):c.687C>A (p.Asn229Lys)	FRZB (N229K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5221	NM_001463.4(FRZB):c.598C>T (p.Arg200Trp)	FRZB (R200W)	Single nucleotide variant (missense variant)	FRZB-related disorder	GBenign
Select item 2616363	NM_001463.4(FRZB):c.593T>C (p.Val198Ala)	FRZB (V198A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361265	NM_001463.4(FRZB):c.578A>G (p.Asn193Ser)	FRZB (N193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097117	NM_001463.4(FRZB):c.564G>T (p.Lys188Asn)	FRZB (K188N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556599	NM_001463.4(FRZB):c.556A>G (p.Thr186Ala)	FRZB (T186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039483	NM_001463.4(FRZB):c.450C>T (p.Pro150=)	FRZB	Single nucleotide variant (synonymous variant)	FRZB-related disorder	GLikely benign
Select item 2651736	NM_001463.4(FRZB):c.450C>A (p.Pro150=)	FRZB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459018	NM_001463.4(FRZB):c.433G>A (p.Gly145Ser)	FRZB (G145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276084	NM_001463.4(FRZB):c.367C>T (p.Leu123Phe)	FRZB (L123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097116	NM_001463.4(FRZB):c.365T>A (p.Ile122Lys)	FRZB (I122K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405417	NM_001463.4(FRZB):c.293T>C (p.Ile98Thr)	FRZB (I98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 522886	NM_001463.4(FRZB):c.282del (p.Ile95fs)	FRZB (I95fs)	Deletion (frameshift variant)	Osteoarthritis	GUncertain significance
Select item 3097115	NM_001463.4(FRZB):c.244C>T (p.Pro82Ser)	FRZB (P82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043566	NM_001463.4(FRZB):c.234C>T (p.Thr78=)	FRZB	Single nucleotide variant (synonymous variant)	FRZB-related disorder	GLikely benign
Select item 2246124	NM_001463.4(FRZB):c.140C>T (p.Pro47Leu)	FRZB (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279991	NM_001463.4(FRZB):c.124C>G (p.Leu42Val)	FRZB (L42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097114	NM_001463.4(FRZB):c.115C>G (p.Arg39Gly)	FRZB (R39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097118	NM_001463.4(FRZB):c.76C>T (p.Arg26Trp)	FRZB (R26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809147	GRCh37/hg19 2q32.1(chr2:183206179-184174590)x3	DNAJC10, DUSP19 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809107	GRCh37/hg19 2q32.1(chr2:183070475-186717885)x3	DNAJC10, DUSP19 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 57