ClinVar for MedGen (Select 95975) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338105	NM_000344.4(SMN1):c.82-2596_723+467del	SMN1	Deletion (splice acceptor variant +1 more)	Spinal muscular atrophy, type II	GPathogenic
Select item 3239715	NM_000344.4(SMN1):c.834+5del	SMN1	Deletion (intron variant)	Spinal muscular atrophy, type II	GUncertain significance
Select item 3239714	NM_000344.4(SMN1):c.850C>T (p.Gln284Ter)	SMN1 (Q252* +1 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy, type II	GPathogenic
Select item 3239713	NM_000344.4(SMN1):c.490C>T (p.Gln164Ter)	SMN1 (Q164*)	Single nucleotide variant (nonsense)	Spinal muscular atrophy, type II	GPathogenic
Select item 3239634	NM_000344.4(SMN1):c.579del (p.Leu194fs)	SMN1 (L194fs)	Deletion (frameshift variant)	Spinal muscular atrophy, type II	GPathogenic
Select item 3239633	NM_000344.4(SMN1):c.603del (p.Pro203fs)	SMN1 (P203fs)	Deletion (frameshift variant)	Spinal muscular atrophy, type II	GPathogenic
Select item 634947	NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	SMN1 (E134fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 634932	NM_000344.4(SMN1):c.662C>T (p.Pro221Leu)	SMN1 (P221L)	Single nucleotide variant (missense variant +1 more)	Spinal muscular atrophy, type II	GUncertain significance
Select item 634931	NM_000344.4(SMN1):c.48_55dup (p.Val19fs)	SMN1 (V19fs)	Duplication (frameshift variant)	Spinal muscular atrophy, type II	GPathogenic
Select item 495833	NM_000344.4(SMN1):c.865T>A (p.Cys289Ser)	SMN1 (C289S +1 more)	Single nucleotide variant (missense variant +1 more)	Kugelberg-Welander disease +4 more	GUncertain significance
Select item 431179	NC_000005.10:g.70946066_70946176del	SMN1	Deletion	Kugelberg-Welander disease +3 more	GPathogenic
Select item 9177	NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)	SMN1 (A111G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 9175	NM_000344.4(SMN1):c.88G>A (p.Asp30Asn)	SMN1 (D30N)	Single nucleotide variant (missense variant)	Spinal muscular atrophy, type II	GPathogenic
Select item 9173	NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	SMN1 (W102*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 9169	NG_008691.1:g.(32498_32055)_(33073_?)del	SMN1	Deletion	Spinal muscular atrophy, type II +1 more	GPathogenic
Select item 9168	NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	SMN1 (A2G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9164	NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)	SMN1 (T274I +1 more)	Single nucleotide variant (missense variant)	Kugelberg-Welander disease +1 more	GConflicting classifications of pathogenicity