ClinVar for Gene (Select 4242) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125725	NM_002405.4(MFNG):c.88C>G (p.Leu30Val)	MFNG (L30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125724	NM_002405.4(MFNG):c.866A>G (p.Gln289Arg)	MFNG (Q275R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125723	NM_002405.4(MFNG):c.646A>T (p.Ser216Cys)	MFNG (S202C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125722	NM_002405.4(MFNG):c.61C>T (p.Leu21Phe)	MFNG (L21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125721	NM_002405.4(MFNG):c.19C>G (p.Arg7Gly)	MFNG (R7G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125719	NM_002405.4(MFNG):c.155A>G (p.Gln52Arg)	MFNG (Q52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125718	NM_002405.4(MFNG):c.122T>C (p.Leu41Pro)	MFNG (L41P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623715	NM_002405.4(MFNG):c.100C>T (p.Arg34Trp)	MFNG (R34W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609455	NM_002405.4(MFNG):c.10C>T (p.Arg4Trp)	MFNG (R4W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482626	NM_002405.4(MFNG):c.94C>T (p.Pro32Ser)	MFNG (P32S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459726	NM_002405.4(MFNG):c.101G>A (p.Arg34Gln)	MFNG (R34Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456956	NM_002405.4(MFNG):c.202C>T (p.Arg68Cys)	MFNG (R68C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	H1-0, IFT27 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2394763	NM_002405.4(MFNG):c.131C>T (p.Pro44Leu)	MFNG (P44L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363540	NM_002405.4(MFNG):c.871C>T (p.Pro291Ser)	MFNG (P277S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362289	NM_002405.4(MFNG):c.593G>T (p.Gly198Val)	MFNG (G198V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349430	NM_002405.4(MFNG):c.452C>T (p.Ala151Val)	MFNG (A137V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307370	NM_002405.4(MFNG):c.143C>G (p.Pro48Arg)	MFNG (P48R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295070	NM_002405.4(MFNG):c.434A>G (p.Asn145Ser)	MFNG (N145S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280369	NM_002405.4(MFNG):c.492C>A (p.Asp164Glu)	MFNG (D164E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244117	NM_002405.4(MFNG):c.521G>A (p.Arg174Gln)	MFNG (R160Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232186	NM_002405.4(MFNG):c.682C>T (p.Arg228Trp)	MFNG (R214W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221268	NM_002405.4(MFNG):c.353C>T (p.Ala118Val)	MFNG (A118V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205046	NM_002405.4(MFNG):c.497A>G (p.Tyr166Cys)	MFNG (Y152C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 150377	GRCh38/hg38 22q12.3-13.1(chr22:36904830-37555510)x1	C1QTNF6, CARD10 +62 more	Copy number loss	See cases	GUncertain significance
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57423	GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)x3	C1QTNF6, CARD10 +51 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Links from Gene

Items: 46