FAM227B[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 148540	GRCh38/hg38 15q21.1-21.2(chr15:49064333-50176783)x1	ATP8B4, COPS2 +18 more	Copy number loss	See cases	GUncertain significance
Select item 3280512	NM_002044.4(GALK2):c.1202G>A (p.Gly401Glu)	FAM227B, GALK2 (G272E +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2605445	NM_002044.4(GALK2):c.1212G>C (p.Trp404Cys)	FAM227B, GALK2 (W275C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488519	NM_002044.4(GALK2):c.1231A>G (p.Met411Val)	FAM227B, GALK2 (M400V +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2464123	NM_002044.4(GALK2):c.1238C>T (p.Pro413Leu)	FAM227B, GALK2 (P402L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596827	NM_002044.4(GALK2):c.1279G>A (p.Ala427Thr)	FAM227B, GALK2 (A298T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3092349	NM_152647.3(FAM227B):c.1420C>T (p.Arg474Cys)	FAM227B, GALK2 (R474C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3092348	NM_152647.3(FAM227B):c.1303A>C (p.Lys435Gln)	FAM227B, GALK2 (K435Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325211	NM_152647.3(FAM227B):c.1291C>T (p.Arg431Cys)	FAM227B, GALK2 (R431C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617677	NM_152647.3(FAM227B):c.1276C>T (p.Pro426Ser)	FAM227B, GALK2 (P426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472979	NM_152647.3(FAM227B):c.1258A>G (p.Ile420Val)	FAM227B, GALK2 (I420V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363021	NM_152647.3(FAM227B):c.1157A>G (p.Asn386Ser)	FAM227B, GALK2 (N386S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508673	NM_152647.3(FAM227B):c.1103C>A (p.Ala368Glu)	FAM227B (A368E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3277404	NM_152647.3(FAM227B):c.1075A>G (p.Lys359Glu)	FAM227B (K359E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472707	NM_152647.3(FAM227B):c.1048C>G (p.Pro350Ala)	FAM227B (P350A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554831	NM_152647.3(FAM227B):c.1015A>G (p.Ile339Val)	FAM227B (I339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278651	NM_002009.4(FGF7):c.53G>A (p.Cys18Tyr)	FAM227B, FGF7 (C18Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278650	NM_002009.4(FGF7):c.58C>T (p.His20Tyr)	FAM227B, FGF7 (H20Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278652	NM_002009.4(FGF7):c.68G>T (p.Cys23Phe)	FAM227B, FGF7 (C23F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480711	NM_002009.4(FGF7):c.76G>T (p.Gly26Cys)	FAM227B, FGF7 (G26C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094755	NM_002009.4(FGF7):c.80C>G (p.Thr27Ser)	FAM227B, FGF7 (T27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094753	NM_002009.4(FGF7):c.107C>T (p.Thr36Ile)	FAM227B, FGF7 (T36I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278653	NM_002009.4(FGF7):c.190A>G (p.Ile64Val)	FAM227B, FGF7 (I64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094754	NM_002009.4(FGF7):c.539A>C (p.Lys180Thr)	FAM227B, FGF7 (K180T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527506	NM_152647.3(FAM227B):c.1003A>G (p.Ile335Val)	FAM227B (I301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545320	NM_152647.3(FAM227B):c.944G>T (p.Gly315Val)	FAM227B (G281V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220379	NM_152647.3(FAM227B):c.943G>T (p.Gly315Cys)	FAM227B (G315C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559544	NM_152647.3(FAM227B):c.824A>C (p.Asn275Thr)	FAM227B (N275T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381317	NM_152647.3(FAM227B):c.809C>T (p.Ser270Leu)	FAM227B (S270L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092355	NM_152647.3(FAM227B):c.797C>T (p.Ala266Val)	FAM227B (A266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092354	NM_152647.3(FAM227B):c.785C>T (p.Thr262Met)	FAM227B (T228M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391203	NM_152647.3(FAM227B):c.710T>C (p.Met237Thr)	FAM227B (M237T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092353	NM_152647.3(FAM227B):c.676G>T (p.Asp226Tyr)	FAM227B (D226Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513928	NM_152647.3(FAM227B):c.646C>G (p.Pro216Ala)	FAM227B (P216A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294791	NM_152647.3(FAM227B):c.502G>A (p.Ala168Thr)	FAM227B (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092352	NM_152647.3(FAM227B):c.469A>T (p.Asn157Tyr)	FAM227B (N157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394706	NM_152647.3(FAM227B):c.413A>C (p.Asp138Ala)	FAM227B (D138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092351	NM_152647.3(FAM227B):c.249C>G (p.Ile83Met)	FAM227B (I83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092350	NM_152647.3(FAM227B):c.220G>A (p.Val74Ile)	FAM227B (V74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539364	NM_152647.3(FAM227B):c.198T>G (p.Ile66Met)	FAM227B (I66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315589	NM_152647.3(FAM227B):c.67C>T (p.Pro23Ser)	FAM227B (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277403	NM_152647.3(FAM227B):c.50G>T (p.Gly17Val)	FAM227B (G17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351722	NM_152647.3(FAM227B):c.49G>A (p.Gly17Arg)	FAM227B (G17R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3277405	NM_152647.3(FAM227B):c.44G>A (p.Gly15Asp)	FAM227B (G15D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063396	GRCh37/hg19 15q21.1-21.2(chr15:49143050-50410530)x1	ATP8B4, COPS2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	AP4E1, ATP8B4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1808790	GRCh37/hg19 15q21.1-21.2(chr15:49359354-49653113)x1	COPS2, FAM227B +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526451	GRCh37/hg19 15q21.1-21.2(chr15:47574384-50369056)	EID1, FAM227B +15 more	Copy number loss	not specified	GPathogenic
Select item 1341295	GRCh37/hg19 15q21.1-21.2(chr15:49481245-49629630)x1	FAM227B, GALK2	Copy number loss	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 685216	GRCh37/hg19 15q21.2(chr15:49563103-49654897)x1	FAM227B, GALK2	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443456	GRCh37/hg19 15q21.2(chr15:49656531-50165554)x3	ATP8B4, DTWD1 +2 more	Copy number gain	See cases	GLikely benign
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 70