FAM110B[gene] - ClinVar

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Items: 45

	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 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 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 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 60363	GRCh38/hg38 8q12.1-12.3(chr8:56925812-61691859)x1	ASPH, BPNT2 +108 more	Copy number loss	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 3091637	NM_001377989.1(FAM110B):c.100C>G (p.Pro34Ala)	FAM110B (P34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232587	NM_001377989.1(FAM110B):c.232G>T (p.Ala78Ser)	FAM110B (A78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551189	NM_001377989.1(FAM110B):c.250C>T (p.Pro84Ser)	FAM110B (P84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543491	NM_001377989.1(FAM110B):c.251C>T (p.Pro84Leu)	FAM110B (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277081	NM_001377989.1(FAM110B):c.319A>T (p.Thr107Ser)	FAM110B (T107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349909	NM_001377989.1(FAM110B):c.425G>A (p.Arg142His)	FAM110B (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228363	NM_001377989.1(FAM110B):c.443G>A (p.Arg148Gln)	FAM110B (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393395	NM_001377989.1(FAM110B):c.466C>T (p.Arg156Cys)	FAM110B (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277080	NM_001377989.1(FAM110B):c.478G>C (p.Ala160Pro)	FAM110B (A160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277079	NM_001377989.1(FAM110B):c.485C>G (p.Ser162Cys)	FAM110B (S162C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264668	NM_001377989.1(FAM110B):c.564G>C (p.Gln188His)	FAM110B (Q188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243449	NM_001377989.1(FAM110B):c.571G>A (p.Glu191Lys)	FAM110B (E191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323733	NM_001377989.1(FAM110B):c.584A>C (p.His195Pro)	FAM110B (H195P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616280	NM_001377989.1(FAM110B):c.611G>T (p.Arg204Leu)	FAM110B (R204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213771	NM_001377989.1(FAM110B):c.640G>A (p.Ala214Thr)	FAM110B (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550959	NM_001377989.1(FAM110B):c.898A>G (p.Asn300Asp)	FAM110B (N300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624211	NM_001377989.1(FAM110B):c.952T>G (p.Cys318Gly)	FAM110B (C318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339095	NM_001377989.1(FAM110B):c.1099G>T (p.Val367Phe)	FAM110B (V367F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527433	GRCh37/hg19 8q12.1(chr8:58247706-60355217)	CYP7A1, FAM110B +5 more	Copy number loss	not specified	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 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	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 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 45