Related gene-specific medical variations for Gene (Select 57731) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065352	NM_020971.3(SPTBN4):c.2903+2T>C	SPTBN4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 2690154	NM_020971.3(SPTBN4):c.3652C>A (p.Gln1218Lys)	SPTBN4 (Q1213K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2664196	NM_020971.3(SPTBN4):c.7196G>C (p.Arg2399Pro)	LOC130064467, SPTBN4 (R2394P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2593717	NM_020971.3(SPTBN4):c.7243C>T (p.Pro2415Ser)	LOC130064467, SPTBN4 (P2410S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544735	NM_020971.3(SPTBN4):c.7303C>G (p.Arg2435Gly)	LOC130064467, SPTBN4 (R2430G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499961	NM_020971.3(SPTBN4):c.7295A>G (p.Asp2432Gly)	LOC130064467, SPTBN4 (D2427G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441659	NM_020971.3(SPTBN4):c.1906C>T (p.Arg636Ter)	SPTBN4 (R631* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 2436470	NM_020971.3(SPTBN4):c.4178C>T (p.Ala1393Val)	SPTBN4 (A1393V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2436469	NM_020971.3(SPTBN4):c.6594C>G (p.Ile2198Met)	SPTBN4 (I2193M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2436468	NM_020971.3(SPTBN4):c.64G>A (p.Ala22Thr)	SPTBN4 (A22T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2383387	NM_020971.3(SPTBN4):c.7196G>T (p.Arg2399Leu)	LOC130064467, SPTBN4 (R2394L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280012	NM_020971.3(SPTBN4):c.7186C>T (p.Arg2396Trp)	LOC130064467, SPTBN4 (R2391W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262770	NM_020971.3(SPTBN4):c.7135A>C (p.Lys2379Gln)	LOC130064467, SPTBN4 (K2379Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237248	NM_020971.3(SPTBN4):c.7099C>A (p.Pro2367Thr)	LOC130064467, SPTBN4 (P2367T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212890	NM_020971.3(SPTBN4):c.7110C>A (p.Asp2370Glu)	LOC130064467, SPTBN4 (D2370E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709124	NM_020971.3(SPTBN4):c.7149del (p.Pro2384fs)	LOC130064467, SPTBN4 (P2384fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 1678320	NM_020971.3(SPTBN4):c.7139C>A (p.Pro2380Gln)	LOC130064467, SPTBN4 (P2380Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342432	NM_020971.3(SPTBN4):c.7228G>C (p.Ala2410Pro)	LOC130064467, SPTBN4 (A2410P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 1342431	NM_020971.3(SPTBN4):c.1798C>T (p.Arg600Cys)	SPTBN4 (R600C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GUncertain significance
Select item 1325625	NM_020971.3(SPTBN4):c.5690G>T (p.Gly1897Val)	SPTBN4 (G1897V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 1325615	NM_020971.3(SPTBN4):c.6113A>G (p.Asp2038Gly)	SPTBN4 (D2038G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 1325614	NM_020971.3(SPTBN4):c.758G>C (p.Gly253Ala)	SPTBN4 (G253A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 1319675	NM_020971.3(SPTBN4):c.2564G>T (p.Arg855Leu)	SPTBN4 (R855L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249306	NM_020971.3(SPTBN4):c.7240C>G (p.Pro2414Ala)	LOC130064467, SPTBN4 (P2414A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248138	NM_020971.3(SPTBN4):c.7319+115C>G	LOC130064467, SPTBN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 988586	NM_020971.3(SPTBN4):c.1249del (p.Leu417fs)	SPTBN4 (L417fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 987747	NM_020971.3(SPTBN4):c.737G>C (p.Arg246Pro)	SPTBN4 (R246P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 987746	NM_020971.3(SPTBN4):c.1149dup (p.Asn384fs)	SPTBN4 (N384fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 987745	NM_020971.3(SPTBN4):c.3375_3393del (p.Asp1126fs)	SPTBN4 (D1126fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 987133	NM_020971.3(SPTBN4):c.5091_5092del (p.Gln1697fs)	SPTBN4 (Q1697fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 737292	NM_020971.3(SPTBN4):c.7089C>T (p.Pro2363=)	LOC130064467, SPTBN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559548	NM_020971.3(SPTBN4):c.7303C>T (p.Arg2435Cys)	LOC130064467, SPTBN4 (R2435C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic

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Items: 32