Related gene-specific medical variations for Gene (Select 79005) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316635	NM_024041.4(SCNM1):c.338T>C (p.Ile113Thr)	SCNM1, TNFAIP8L2-SCNM1 (I113T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316634	NM_024041.4(SCNM1):c.580C>T (p.Leu194Phe)	SCNM1, TNFAIP8L2-SCNM1 (L159F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158586	NM_024041.4(SCNM1):c.74T>A (p.Leu25Gln)	SCNM1, TNFAIP8L2-SCNM1 (L25Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3158585	NM_024041.4(SCNM1):c.583A>G (p.Thr195Ala)	SCNM1, TNFAIP8L2-SCNM1 (T160A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158584	NM_024041.4(SCNM1):c.484C>A (p.Pro162Thr)	SCNM1, TNFAIP8L2-SCNM1 (P127T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158583	NM_024041.4(SCNM1):c.367C>A (p.His123Asn)	SCNM1, TNFAIP8L2-SCNM1 (H88N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158582	NM_024041.4(SCNM1):c.364C>G (p.Pro122Ala)	SCNM1, TNFAIP8L2-SCNM1 (P122A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158581	NM_024041.4(SCNM1):c.14G>A (p.Arg5Lys)	SCNM1, TNFAIP8L2-SCNM1 (R5K)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2639169	NM_024041.4(SCNM1):c.521C>T (p.Ala174Val)	SCNM1, TNFAIP8L2-SCNM1 (A139V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2596389	NM_024041.4(SCNM1):c.421G>A (p.Val141Ile)	SCNM1, TNFAIP8L2-SCNM1 (V141I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550513	NM_024041.4(SCNM1):c.590G>A (p.Arg197Gln)	SCNM1, TNFAIP8L2-SCNM1 (R162Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541849	NM_024041.4(SCNM1):c.59G>A (p.Arg20Lys)	SCNM1, TNFAIP8L2-SCNM1 (R20K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2324612	NM_024041.4(SCNM1):c.365C>G (p.Pro122Arg)	SCNM1, TNFAIP8L2-SCNM1 (P87R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306629	NM_024041.4(SCNM1):c.140G>T (p.Cys47Phe)	SCNM1, TNFAIP8L2-SCNM1 (C47F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261197	NM_024041.4(SCNM1):c.5C>G (p.Ser2Cys)	SCNM1, TNFAIP8L2-SCNM1 (S2C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2260597	NM_024041.4(SCNM1):c.627G>C (p.Trp209Cys)	SCNM1, TNFAIP8L2-SCNM1 (W209C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222757	NM_024041.4(SCNM1):c.9C>G (p.Phe3Leu)	SCNM1, TNFAIP8L2-SCNM1 (F3L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1712500	NM_024041.4(SCNM1):c.187del (p.Arg63fs)	SCNM1, TNFAIP8L2-SCNM1 (R28fs +1 more)	Deletion (frameshift variant +1 more)	Orofaciodigital syndrome 19	GPathogenic
Select item 1712499	NM_024041.4:c.301_302ins[N[324];285_301]	SCNM1	Insertion	Orofaciodigital syndrome 19	GPathogenic
Select item 1712498	NM_024041.4(SCNM1):c.152C>A (p.Pro51Gln)	SCNM1, TNFAIP8L2-SCNM1 (P51Q +1 more)	Single nucleotide variant (missense variant +1 more)	Orofaciodigital syndrome 19	GPathogenic

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Items: 20