FAM107B[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 2407755	NM_031453.4(FAM107B):c.839A>G (p.Gln280Arg)	FAM107B (Q105R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785307	NM_031453.4(FAM107B):c.811C>G (p.Leu271Val)	FAM107B (L135V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091628	NM_031453.4(FAM107B):c.748A>C (p.Lys250Gln)	FAM107B (K114Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395010	NM_031453.4(FAM107B):c.672C>A (p.Asn224Lys)	FAM107B (N224K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091627	NM_031453.4(FAM107B):c.608G>A (p.Arg203Gln)	FAM107B (R203Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477234	NM_031453.4(FAM107B):c.607C>T (p.Arg203Trp)	FAM107B (R28W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382371	NM_031453.4(FAM107B):c.584T>C (p.Leu195Pro)	FAM107B (L195P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532052	NM_031453.4(FAM107B):c.494A>G (p.His165Arg)	FAM107B (H29R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3091626	NM_031453.4(FAM107B):c.493C>G (p.His165Asp)	FAM107B (H165D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545171	NM_031453.4(FAM107B):c.478C>T (p.Pro160Ser)	FAM107B (P24S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 781937	NM_031453.4(FAM107B):c.444C>T (p.Leu148=)	FAM107B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2382403	NM_031453.4(FAM107B):c.404C>T (p.Thr135Met)	FAM107B (T135M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 709563	NM_031453.4(FAM107B):c.348G>A (p.Ala116=)	FAM107B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 815319	GRCh37/hg19 10p13(chr10:14415692-14965689)x3	SUV39H2, HSPA14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 563781	GRCh37/hg19 10p13(chr10:12802555-14847149)x1	OPTN, BEND7 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 33