FAM13B[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 2293262	NM_001300921.2(PKD2L2):c.*18-2248A>C	FAM13B, PKD2L2 (K611Q)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2526465	NM_001385994.1(FAM13B):c.2696C>T (p.Ala899Val)	FAM13B, PKD2L2 (A617V +16 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3091856	NM_001385994.1(FAM13B):c.2561G>A (p.Arg854Gln)	FAM13B (R572Q +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545745	NM_001385994.1(FAM13B):c.2511C>G (p.Asn837Lys)	FAM13B (N555K +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327727	NM_001385994.1(FAM13B):c.2497T>C (p.Ser833Pro)	FAM13B (S811P +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288029	NM_001385994.1(FAM13B):c.2417A>C (p.Glu806Ala)	FAM13B (E660A +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251255	NM_001385994.1(FAM13B):c.2362A>G (p.Arg788Gly)	FAM13B (R496G +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494816	NM_001385994.1(FAM13B):c.2353A>C (p.Thr785Pro)	FAM13B (T573P +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238553	NM_001385994.1(FAM13B):c.2345C>G (p.Ser782Cys)	FAM13B (S542C +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551101	NM_001385994.1(FAM13B):c.2324G>C (p.Ser775Thr)	FAM13B (S607T +14 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277181	NM_001385994.1(FAM13B):c.2022C>G (p.Asp674Glu)	FAM13B (D622E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390401	NM_001385994.1(FAM13B):c.2015C>T (p.Ser672Phe)	FAM13B (S532F +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338587	NM_001385994.1(FAM13B):c.1975C>A (p.Arg659Ser)	FAM13B (R447S +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285002	NM_001385994.1(FAM13B):c.1975C>T (p.Arg659Cys)	FAM13B (R607C +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3277178	NM_001385994.1(FAM13B):c.1926T>G (p.Ile642Met)	FAM13B (I378M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091854	NM_001385994.1(FAM13B):c.1856A>G (p.Tyr619Cys)	FAM13B (Y407C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614524	NM_001385994.1(FAM13B):c.1810C>G (p.Gln604Glu)	FAM13B (Q464E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537092	NM_001385994.1(FAM13B):c.1721T>G (p.Ile574Ser)	FAM13B (I292S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536142	NM_001385994.1(FAM13B):c.1696T>C (p.Ser566Pro)	FAM13B (S302P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091853	NM_001385994.1(FAM13B):c.1661G>A (p.Arg554His)	FAM13B, LOC129389374 (R272H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518596	NM_001385994.1(FAM13B):c.1660C>T (p.Arg554Cys)	FAM13B, LOC129389374 (R272C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209844	NM_001385994.1(FAM13B):c.1634G>A (p.Arg545His)	FAM13B, LOC129389374 (R263H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091852	NM_001385994.1(FAM13B):c.1612T>C (p.Cys538Arg)	FAM13B, LOC129389374 (C274R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297381	NM_001385994.1(FAM13B):c.1594C>T (p.His532Tyr)	FAM13B, LOC129389374 (H414Y +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410728	NM_001385994.1(FAM13B):c.1587G>T (p.Met529Ile)	FAM13B, LOC129389374 (M477I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390288	NM_001385994.1(FAM13B):c.1553G>A (p.Gly518Glu)	FAM13B, LOC129389374 (G236E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223065	NM_001385994.1(FAM13B):c.1399C>T (p.His467Tyr)	FAM13B (H207Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091851	NM_001385994.1(FAM13B):c.1313G>A (p.Cys438Tyr)	FAM13B (C178Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384211	NM_001385994.1(FAM13B):c.1301G>A (p.Ser434Asn)	FAM13B (S382N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481179	NM_001385994.1(FAM13B):c.1282C>T (p.His428Tyr)	FAM13B (H238Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510913	NM_001385994.1(FAM13B):c.1243A>T (p.Arg415Trp)	FAM13B (R225W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246195	NM_001385994.1(FAM13B):c.1183G>A (p.Val395Ile)	FAM13B (V395I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249057	NM_001385994.1(FAM13B):c.1153G>T (p.Val385Leu)	FAM13B (V125L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091850	NM_001385994.1(FAM13B):c.1096T>G (p.Cys366Gly)	FAM13B (C124G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570154	NM_001385994.1(FAM13B):c.1061A>T (p.Asp354Val)	FAM13B (D164V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378028	NM_001385994.1(FAM13B):c.856A>G (p.Ile286Val)	FAM13B (I286V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228770	NM_001385994.1(FAM13B):c.847A>G (p.Ser283Gly)	FAM13B (S23G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091860	NM_001385994.1(FAM13B):c.746A>T (p.Glu249Val)	FAM13B (E59V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091859	NM_001385994.1(FAM13B):c.722A>G (p.Asp241Gly)	FAM13B (D123G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3091858	NM_001385994.1(FAM13B):c.691G>T (p.Val231Phe)	FAM13B (V41F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480523	NM_001385994.1(FAM13B):c.488A>G (p.His163Arg)	FAM13B (H163R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3091857	NM_001385994.1(FAM13B):c.476A>G (p.Asn159Ser)	FAM13B (N41S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2408032	NM_001385994.1(FAM13B):c.341T>C (p.Leu114Ser)	FAM13B (L114S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2263693	NM_001385994.1(FAM13B):c.310G>A (p.Glu104Lys)	FAM13B (E104K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2550604	NM_001385994.1(FAM13B):c.133G>A (p.Val45Ile)	FAM13B (V45I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2314660	NM_001385994.1(FAM13B):c.121A>G (p.Ile41Val)	FAM13B (I41V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3277179	NM_001385994.1(FAM13B):c.107A>G (p.Asn36Ser)	FAM13B (N36S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3246511	NC_000005.9:g.(?_137206341)_(137523102_?)dup	WNT8A, NME5 +5 more	Duplication	not provided	GUncertain significance
Select item 3062839	GRCh37/hg19 5q31.2(chr5:137364109-137524867)x1	BRD8, CDC23 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	APBB3, BRD8 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 67