Related gene-specific medical variations for Gene (Select 542767) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262423	NM_001007537.3(C1QTNF9B):c.929G>A (p.Arg310Lys)	C1QTNF9B, PCOTH (R310K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135814	NM_001007537.3(C1QTNF9B):c.935A>G (p.Asn312Ser)	C1QTNF9B, PCOTH (N312S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135813	NM_001007537.3(C1QTNF9B):c.872T>G (p.Ile291Ser)	C1QTNF9B, PCOTH (I291S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135811	NM_001007537.3(C1QTNF9B):c.746A>G (p.Tyr249Cys)	C1QTNF9B, PCOTH (Y249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135810	NM_001007537.3(C1QTNF9B):c.589C>G (p.Leu197Val)	C1QTNF9B, PCOTH (L197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135808	NM_001007537.3(C1QTNF9B):c.347G>A (p.Gly116Glu)	C1QTNF9B, PCOTH (G116E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126694	NM_005932.4(MIPEP):c.64G>A (p.Ala22Thr)	MIPEP, PCOTH (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126689	NM_005932.4(MIPEP):c.189+5_189+6delinsAA	MIPEP, PCOTH	Indel (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3126688	NM_005932.4(MIPEP):c.185G>C (p.Arg62Pro)	MIPEP, PCOTH (R62P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2862922	NM_005932.4(MIPEP):c.167T>G (p.Leu56Trp)	MIPEP, PCOTH (L56W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2715262	NM_005932.4(MIPEP):c.15A>C (p.Gly5=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2579965	NM_005932.4(MIPEP):c.18G>T (p.Arg6Ser)	MIPEP, PCOTH (R6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2527777	NM_001007537.3(C1QTNF9B):c.957C>A (p.Asp319Glu)	C1QTNF9B, PCOTH (D319E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525597	NM_001007537.3(C1QTNF9B):c.791T>A (p.Val264Glu)	C1QTNF9B, PCOTH (V264E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485159	NM_001007537.3(C1QTNF9B):c.941T>C (p.Leu314Ser)	C1QTNF9B, PCOTH (L314S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476256	NM_001007537.3(C1QTNF9B):c.958G>A (p.Asp320Asn)	C1QTNF9B, PCOTH (D320N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471716	NM_001007537.3(C1QTNF9B):c.868A>G (p.Ser290Gly)	C1QTNF9B, PCOTH (S290G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2421629	NM_005932.4(MIPEP):c.82G>A (p.Glu28Lys)	MIPEP, PCOTH (E28K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418156	NM_005932.4(MIPEP):c.138C>G (p.Ala46=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395464	NM_001007537.3(C1QTNF9B):c.841G>A (p.Val281Met)	C1QTNF9B, PCOTH (V281M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321978	NM_001007537.3(C1QTNF9B):c.904T>G (p.Trp302Gly)	C1QTNF9B, PCOTH (W302G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301187	NM_005932.4(MIPEP):c.59G>A (p.Arg20His)	MIPEP, PCOTH (R20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297854	NM_005932.4(MIPEP):c.146_157del (p.Val49_Gln52del)	MIPEP, PCOTH	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1998360	NM_005932.4(MIPEP):c.69C>T (p.Gly23=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964313	NM_005932.4(MIPEP):c.189+10G>A	MIPEP, PCOTH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955725	NM_005932.4(MIPEP):c.153C>T (p.Pro51=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926951	NM_005932.4(MIPEP):c.188G>T (p.Arg63Leu)	MIPEP, PCOTH (R63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919393	NM_005932.4(MIPEP):c.87C>T (p.Ala29=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1223310	NM_005932.4(MIPEP):c.189+139G>C	MIPEP, PCOTH	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1030040	NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr)	MIPEP, PCOTH (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 806993	NM_005932.4(MIPEP):c.104G>T (p.Arg35Met)	MIPEP, PCOTH (R35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789633	NM_001007537.3(C1QTNF9B):c.830G>A (p.Arg277Lys)	C1QTNF9B, PCOTH (R277K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 787409	NM_005932.4(MIPEP):c.46G>T (p.Ala16Ser)	MIPEP, PCOTH (A16S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775324	NM_001007537.3(C1QTNF9B):c.727T>A (p.Cys243Ser)	C1QTNF9B, PCOTH (C243S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710181	NM_001007537.3(C1QTNF9B):c.957C>T (p.Asp319=)	C1QTNF9B, PCOTH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709907	NM_005932.4(MIPEP):c.184C>T (p.Arg62Cys)	MIPEP, PCOTH (R62C)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign

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Links from Gene

Items: 36