ClinVar for Gene (Select 567) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3018572	NM_004048.4(B2M):c.347-15C>T	B2M	Single nucleotide variant (intron variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2899666	NM_004048.4(B2M):c.114A>G (p.Gly38=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2848871	NM_004048.4(B2M):c.245T>C (p.Phe82Ser)	B2M (F82S)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 2848870	NM_004048.4(B2M):c.135C>G (p.Cys45Trp)	B2M (C45W)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 2824511	NM_004048.4(B2M):c.20T>A (p.Leu7Ter)	B2M (L7*)	Single nucleotide variant (nonsense)	Hypoproteinemia, hypercatabolic	GPathogenic
Select item 2804165	NM_004048.4(B2M):c.312T>C (p.His104=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2794329	NM_004048.4(B2M):c.67+20C>A	B2M	Single nucleotide variant (intron variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2762284	NM_004048.4(B2M):c.126C>T (p.Phe42=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2740082	NM_004048.4(B2M):c.67+20C>T	B2M	Single nucleotide variant (intron variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2703987	NM_004048.4(B2M):c.27G>A (p.Val9=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2572170	NC_000015.10:g.44330225_44821972dup	B2M, CTDSPL2 +21 more	Duplication	See cases	GUncertain significance
Select item 2540393	NM_004048.4(B2M):c.212A>G (p.His71Arg)	B2M (H71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425014	NC_000015.9:g.(?_45007601)_(45008540_?)dup	B2M	Duplication	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 2417400	NM_004048.4(B2M):c.24T>C (p.Ala8=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2177853	NM_004048.4(B2M):c.301C>T (p.Arg101Cys)	B2M (R101C)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 2133605	NM_004048.4(B2M):c.358T>C (p.Ter120Gln)	B2M	Single nucleotide variant (stop lost)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 2131279	NM_004048.4(B2M):c.147G>A (p.Gly49=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 2028582	NM_004048.4(B2M):c.52C>G (p.Leu18Val)	B2M (L18V)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 2007357	NM_004048.4(B2M):c.355A>G (p.Met119Val)	B2M (M119V)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 2002657	NM_004048.4(B2M):c.94C>T (p.Arg32Cys)	B2M (R32C)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1987439	NM_004048.4(B2M):c.306G>A (p.Val102=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1981635	NM_004048.4(B2M):c.156A>C (p.Pro52=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1944292	NM_004048.4(B2M):c.278C>T (p.Thr93Ile)	B2M (T93I)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1931224	NM_004048.4(B2M):c.300C>T (p.Cys100=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1910383	NM_004048.4(B2M):c.8G>A (p.Arg3His)	B2M (R3H)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1645345	NM_004048.4(B2M):c.33G>C (p.Ala11=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1636638	NM_004048.4(B2M):c.68-13C>T	B2M	Single nucleotide variant (intron variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely benign
Select item 1633969	NM_004048.4(B2M):c.147G>T (p.Gly49=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1578487	NM_004048.4(B2M):c.67+12C>T	B2M	Single nucleotide variant (intron variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely benign
Select item 1558254	NM_004048.4(B2M):c.67+19C>T	B2M	Single nucleotide variant (intron variant)	Hypoproteinemia, hypercatabolic +1 more	GBenign/Likely benign
Select item 1545805	NM_004048.4(B2M):c.68-12G>A	B2M	Single nucleotide variant (intron variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1512065	NM_004048.4(B2M):c.106G>A (p.Glu36Lys)	B2M (E36K)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1494121	NM_004048.4(B2M):c.313G>A (p.Val105Met)	B2M (V105M)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1479725	NM_004048.4(B2M):c.160G>A (p.Asp54Asn)	B2M (D54N)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1468686	NM_004048.4(B2M):c.50G>A (p.Gly17Asp)	B2M (G17D)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1408274	NM_004048.4(B2M):c.278C>A (p.Thr93Asn)	B2M (T93N)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic +1 more	GUncertain significance
Select item 1399008	NM_004048.4(B2M):c.340A>C (p.Lys114Gln)	B2M (K114Q)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 1379541	NM_004048.4(B2M):c.61A>G (p.Ile21Val)	B2M (I21V)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1146713	NM_004048.4(B2M):c.68-10T>C	B2M	Single nucleotide variant (intron variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1119242	NM_004048.4(B2M):c.279T>C (p.Thr93=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1103348	NM_004048.4(B2M):c.347-4A>G	B2M	Single nucleotide variant (intron variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1087135	NM_004048.4(B2M):c.168A>G (p.Glu56=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 1048547	NM_004048.4(B2M):c.154_155delinsTT (p.Pro52Leu)	B2M (P52L)	Indel (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1011724	NM_004048.4(B2M):c.7C>T (p.Arg3Cys)	B2M (R3C)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	B2M, BLOC1S6 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 841336	NM_004048.4(B2M):c.85G>T (p.Val29Phe)	B2M (V29F)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 833124	NC_000015.10:g.(?_44563111)_(44860174_?)dup	B2M, PATL2 +2 more	Duplication	Hereditary spastic paraplegia 11	GUncertain significance
Select item 719660	NM_004048.4(B2M):c.159C>T (p.Ser53=)	B2M	Single nucleotide variant (synonymous variant)	Hypoproteinemia, hypercatabolic	GLikely benign
Select item 564198	GRCh37/hg19 15q21.1(chr15:44890130-45381998)x3	TERB2, SPG11 +4 more	Copy number gain	not provided	GUncertain significance
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	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 534623	NM_004048.4(B2M):c.5C>T (p.Ser2Phe)	B2M (S2F)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AP4E1 +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 376372	NM_004048.4(B2M):c.2T>G (p.Met1Arg)	B2M (M1R)	Single nucleotide variant (missense variant +1 more)	Squamous cell lung carcinoma +9 more	GLikely pathogenic
Select item 376371	NM_004048.4(B2M):c.2T>C (p.Met1Thr)	B2M (M1T)	Single nucleotide variant (missense variant +1 more)	Squamous cell lung carcinoma +9 more	GLikely pathogenic
Select item 376370	NM_004048.4(B2M):c.1A>T (p.Met1Leu)	B2M (M1L)	Single nucleotide variant (missense variant +1 more)	Non-Hodgkin lymphoma +9 more	GLikely pathogenic
Select item 376369	NM_004048.4(B2M):c.1A>G (p.Met1Val)	B2M (M1V)	Single nucleotide variant (missense variant +1 more)	Squamous cell lung carcinoma +9 more	GLikely pathogenic
Select item 376368	NM_004048.4(B2M):c.3G>A (p.Met1Ile)	B2M (M1I)	Single nucleotide variant (missense variant +1 more)	Non-Hodgkin lymphoma +9 more	GLikely pathogenic
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance
Select item 217869	NM_004048.4(B2M):c.67+1G>T	B2M	Single nucleotide variant (splice donor variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely pathogenic
Select item 31907	NM_004048.4(B2M):c.286G>A (p.Asp96Asn)	B2M (D96N)	Single nucleotide variant (missense variant)	Non-Hodgkin lymphoma	GPathogenic
Select item 17740	NM_004048.4(B2M):c.31G>C (p.Ala11Pro)	B2M (A11P)	Single nucleotide variant (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance

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Links from Gene

Items: 70