80739[geneid] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic
Select item 1704740	NM_138272.3(MPIG6B):c.30del (p.Leu11fs)	MPIG6B (L11fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 643352	NM_138272.3(MPIG6B):c.80del (p.Pro27fs)	MPIG6B (P27fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 988825	NM_138272.3(MPIG6B):c.132G>C (p.Trp44Cys)	MPIG6B (W44C)	Single nucleotide variant (missense variant)	Thrombocytopenia +1 more	GUncertain significance
Select item 993022	NM_138272.3(MPIG6B):c.149dup (p.Ala52fs)	MPIG6B (A52fs)	Duplication (frameshift variant)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 3057590	NM_138272.3(MPIG6B):c.185C>A (p.Pro62Gln)	MPIG6B (P62Q)	Single nucleotide variant (missense variant)	MPIG6B-related disorder	GLikely benign
Select item 828136	NM_138272.3(MPIG6B):c.248G>A (p.Arg83His)	MPIG6B (R83H)	Single nucleotide variant (missense variant)	Thrombocytopenia, anemia, and myelofibrosis	GUncertain significance
Select item 2583036	NM_138272.3(MPIG6B):c.292T>C (p.Leu98=)	MPIG6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055478	NM_138272.3(MPIG6B):c.312C>A (p.Gly104=)	MPIG6B	Single nucleotide variant (synonymous variant)	MPIG6B-related disorder	GBenign
Select item 1687190	NM_138272.3(MPIG6B):c.323G>T (p.Cys108Phe)	MPIG6B (C108F)	Single nucleotide variant (missense variant)	Thrombocytopenia, anemia, and myelofibrosis	GUncertain significance
Select item 417972	NM_138272.3(MPIG6B):c.324C>A (p.Cys108Ter)	MPIG6B (C108*)	Single nucleotide variant (nonsense)	Thrombocytopenia, anemia, and myelofibrosis	GPathogenic
Select item 2627094	NM_138272.3(MPIG6B):c.332del (p.Arg111fs)	MPIG6B (R111fs)	Deletion (frameshift variant)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 1684426	NM_138272.3(MPIG6B):c.337G>T (p.Glu113Ter)	MPIG6B (E113*)	Single nucleotide variant (nonsense)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 3065571	NM_138272.3(MPIG6B):c.346_347del (p.Ser116fs)	MPIG6B (S116fs)	Microsatellite (frameshift variant)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 1028384	NM_138272.3(MPIG6B):c.518C>A (p.Pro173Gln)	MPIG6B (P173Q)	Single nucleotide variant (missense variant +2 more)	Thrombocytopenia, anemia, and myelofibrosis	GUncertain significance
Select item 1245986	NM_138272.3(MPIG6B):c.523C>G (p.Arg175Gly)	MPIG6B (F144L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 660958	NM_138272.3(MPIG6B):c.523C>T (p.Arg175Ter)	MPIG6B (R175*)	Single nucleotide variant (nonsense +2 more)	Thrombocytopenia, anemia, and myelofibrosis +1 more	GPathogenic/Likely pathogenic
Select item 775236	NM_138272.3(MPIG6B):c.532C>T (p.Pro178Ser)	MPIG6B (P178S)	Single nucleotide variant (missense variant +2 more)	MPIG6B-related disorder +1 more	GBenign
Select item 2634272	NM_138272.3(MPIG6B):c.542-9C>G	MPIG6B (P154R)	Single nucleotide variant (synonymous variant +2 more)	MPIG6B-related disorder	GUncertain significance
Select item 709030	NM_138272.3(MPIG6B):c.547C>G (p.Leu183Val)	MPIG6B (L139V +4 more)	Single nucleotide variant (missense variant)	MPIG6B-related disorder +1 more	GBenign/Likely benign
Select item 1705533	NM_138272.3(MPIG6B):c.558C>T (p.Thr186=)	MPIG6B (R193* +1 more)	Single nucleotide variant (nonsense +1 more)	Thrombocytopenia, anemia, and myelofibrosis	GLikely pathogenic
Select item 3202263	NM_138272.3(MPIG6B):c.579G>C (p.Lys193Asn)	MPIG6B (K149N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656416	NM_138272.3(MPIG6B):c.599C>T (p.Pro200Leu)	MPIG6B (P156L +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 988872	NM_138272.3(MPIG6B):c.621G>T (p.Pro207=)	MPIG6B (E170* +2 more)	Single nucleotide variant (nonsense +2 more)	Thrombocytopenia +1 more	GUncertain significance
Select item 3202265	NM_138272.3(MPIG6B):c.683C>T (p.Ala228Val)	MPIG6B (A184V +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 32