1524[geneid] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 783371	NM_001337.4(CX3CR1):c.1054T>C (p.Leu352=)	CX3CR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079152	NM_001337.4(CX3CR1):c.980C>T (p.Ser327Phe)	CX3CR1 (S327F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371440	NM_001337.4(CX3CR1):c.979T>A (p.Ser327Thr)	CX3CR1 (S327T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390292	NM_001337.4(CX3CR1):c.952C>T (p.Arg318Cys)	CX3CR1 (R318C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317387	NM_001337.4(CX3CR1):c.850A>G (p.Ser284Gly)	CX3CR1 (S284G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 25511	NM_001337.4(CX3CR1):c.839C>T (p.Thr280Met)	CX3CR1 (T280M +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 8152	CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met)	CX3CR1 (T280M +3 more)	Single nucleotide variant (missense variant)	Age related macular degeneration 12 +2 more	GPathogenic; protective; risk factor
Select item 2593571	NM_001337.4(CX3CR1):c.832A>G (p.Thr278Ala)	CX3CR1 (T310A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764930	NM_001337.4(CX3CR1):c.825C>T (p.Leu275=)	CX3CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 120091	NM_001337.4(CX3CR1):c.785T>C (p.Phe262Ser)	CX3CR1 (F294S +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2463536	NM_001337.4(CX3CR1):c.772C>T (p.Leu258Phe)	CX3CR1 (L290F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788850	NM_001337.4(CX3CR1):c.765G>A (p.Thr255=)	CX3CR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 242801	NM_001337.4(CX3CR1):c.745G>A (p.Val249Ile)	CX3CR1 (V249I +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2515085	NM_001337.4(CX3CR1):c.734C>T (p.Thr245Ile)	CX3CR1 (T245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323246	NM_001337.4(CX3CR1):c.732G>C (p.Trp244Cys)	CX3CR1 (W276C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034897	NM_001337.4(CX3CR1):c.657T>C (p.Phe219=)	CX3CR1	Single nucleotide variant (synonymous variant)	CX3CR1-related disorder	GLikely benign
Select item 721354	NM_001337.4(CX3CR1):c.576T>C (p.Asn192=)	CX3CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058556	NM_001337.4(CX3CR1):c.571C>T (p.Arg191Cys)	CX3CR1 (R191C +1 more)	Single nucleotide variant (missense variant)	CX3CR1-related disorder	GLikely benign
Select item 2390725	NM_001337.4(CX3CR1):c.565G>A (p.Val189Met)	CX3CR1 (V189M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268321	NM_001337.4(CX3CR1):c.547C>T (p.Leu183Phe)	CX3CR1 (L183F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079151	NM_001337.4(CX3CR1):c.529G>A (p.Gly177Ser)	CX3CR1 (G209S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079150	NM_001337.4(CX3CR1):c.485C>G (p.Ala162Gly)	CX3CR1 (A162G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602205	NM_001337.4(CX3CR1):c.485C>T (p.Ala162Val)	CX3CR1 (A194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721250	NM_001337.4(CX3CR1):c.456C>T (p.Gly152=)	CX3CR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079149	NM_001337.4(CX3CR1):c.376G>T (p.Asp126Tyr)	CX3CR1 (D126Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217038	NM_001337.4(CX3CR1):c.356T>C (p.Phe119Ser)	CX3CR1 (F119S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750552	NM_001337.4(CX3CR1):c.335G>C (p.Gly112Ala)	CX3CR1 (G144A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1048898	NM_001337.4(CX3CR1):c.319G>A (p.Ala107Thr)	CX3CR1 (A107T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2511870	NM_001337.4(CX3CR1):c.296A>G (p.Asn99Ser)	CX3CR1 (N131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777772	NM_001337.4(CX3CR1):c.169A>G (p.Thr57Ala)	CX3CR1 (T57A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 781968	NM_001337.4(CX3CR1):c.117C>T (p.Ser39=)	CX3CR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777570	NM_001337.4(CX3CR1):c.74A>G (p.Asp25Gly)	CX3CR1 (D25G +1 more)	Single nucleotide variant (missense variant)	CX3CR1-related disorder +1 more	GLikely benign
Select item 773131	NM_001337.4(CX3CR1):c.39G>T (p.Glu13Asp)	CX3CR1 (E13D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3046700	NM_001171174.1(CX3CR1):c.21G>A (p.Ala7=)	CX3CR1	Single nucleotide variant (synonymous variant)	CX3CR1-related disorder	GLikely benign
Select item 992523	NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala)	CX3CR1 (P4A)	Single nucleotide variant (missense variant)	Coronary heart disease, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 42