Related gene-specific medical variations for Gene (Select 8467) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360203	NM_003601.4(SMARCA5):c.1978C>A (p.His660Asn)	SMARCA5 (H660N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358935	NM_003601.4(SMARCA5):c.2500A>G (p.Lys834Glu)	SMARCA5 (K834E)	Single nucleotide variant (missense variant)	SMARCA5-associated neurodevelopmental disorder	GUncertain significance
Select item 3320779	NM_003601.4(SMARCA5):c.37C>T (p.Pro13Ser)	SMARCA5-AS1, SMARCA5 (P13S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3320778	NM_003601.4(SMARCA5):c.151G>T (p.Ala51Ser)	SMARCA5, SMARCA5-AS1 (A51S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166292	NM_003601.4(SMARCA5):c.25C>G (p.Pro9Ala)	SMARCA5, SMARCA5-AS1 (P9A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3166287	NM_003601.4(SMARCA5):c.148A>C (p.Ser50Arg)	SMARCA5, SMARCA5-AS1 (S50R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048543	NM_003601.4(SMARCA5):c.161C>T (p.Ala54Val)	LOC129993145, SMARCA5 +1 more (A54V)	Single nucleotide variant (non-coding transcript variant +1 more)	SMARCA5-related disorder	GLikely benign
Select item 2611833	NM_003601.4(SMARCA5):c.57G>T (p.Lys19Asn)	SMARCA5, SMARCA5-AS1 (K19N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491644	NM_003601.4(SMARCA5):c.146C>T (p.Ala49Val)	SMARCA5, SMARCA5-AS1 (A49V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409961	NM_003601.4(SMARCA5):c.166G>T (p.Ala56Ser)	LOC129993145, SMARCA5 +1 more (A56S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2405456	NM_003601.4(SMARCA5):c.143C>G (p.Ala48Gly)	SMARCA5, SMARCA5-AS1 (A48G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405455	NM_003601.4(SMARCA5):c.140C>G (p.Ser47Cys)	SMARCA5, SMARCA5-AS1 (S47C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291205	NM_003601.4(SMARCA5):c.163G>A (p.Asp55Asn)	LOC129993145, SMARCA5 +1 more (D55N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281158	NM_003601.4(SMARCA5):c.131C>T (p.Ala44Val)	SMARCA5, SMARCA5-AS1 (A44V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222766	NM_003601.4(SMARCA5):c.119T>G (p.Val40Gly)	SMARCA5, SMARCA5-AS1 (V40G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205920	NM_003601.4(SMARCA5):c.167C>A (p.Ala56Asp)	LOC129993145, SMARCA5 +1 more (A56D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1707054	NM_003601.4(SMARCA5):c.23C>A (p.Pro8Gln)	SMARCA5, SMARCA5-AS1 (P8Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1510409	NM_003601.4(SMARCA5):c.3G>A (p.Met1Ile)	SMARCA5, SMARCA5-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 740035	NM_003601.4(SMARCA5):c.78C>T (p.Ser26=)	SMARCA5, SMARCA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 728189	NM_003601.4(SMARCA5):c.153T>G (p.Ala51=)	SMARCA5, SMARCA5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 599594	NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln)	SMARCA5 (K314Q)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic

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Links from Gene

Items: 21