FAM76B[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3092517	NM_144664.5(FAM76B):c.935A>G (p.Lys312Arg)	FAM76B (K311R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551985	NM_144664.5(FAM76B):c.894G>C (p.Met298Ile)	FAM76B (M297I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092516	NM_144664.5(FAM76B):c.628A>G (p.Thr210Ala)	FAM76B (T210A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3277479	NM_144664.5(FAM76B):c.596G>C (p.Gly199Ala)	FAM76B (G199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092515	NM_144664.5(FAM76B):c.551G>A (p.Ser184Asn)	FAM76B (S184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092514	NM_144664.5(FAM76B):c.533A>C (p.His178Pro)	FAM76B (H178P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472504	NM_144664.5(FAM76B):c.527A>G (p.His176Arg)	FAM76B (H176R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528840	NM_144664.5(FAM76B):c.484A>G (p.Thr162Ala)	FAM76B (T162A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315103	NM_144664.5(FAM76B):c.458A>G (p.His153Arg)	FAM76B (H153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522294	NM_144664.5(FAM76B):c.378A>C (p.Leu126Phe)	FAM76B (L126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243552	NM_144664.5(FAM76B):c.121A>C (p.Thr41Pro)	FAM76B (T41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409594	NM_144664.5(FAM76B):c.50C>T (p.Pro17Leu)	FAM76B, LOC130006617 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546577	NM_144664.5(FAM76B):c.49C>T (p.Pro17Ser)	FAM76B, LOC130006617 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1708198	GRCh37/hg19 11q21(chr11:94693565-95725474)x3	CEP57, CWC15 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527665	GRCh37/hg19 11q21(chr11:95512235-95991687)	CEP57, FAM76B +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563848	GRCh37/hg19 11q21(chr11:95512235-95991687)x3	CEP57, FAM76B +2 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 221480	GRCh37/hg19 11q21(chr11:94696615-95528715)x3	CEP57, CWC15 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 33