ClinVar for MedGen (Select 1382171) - ClinVar

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Items: 50

	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 2585635	NM_020971.3(SPTBN4):c.3205G>A (p.Glu1069Lys)	SPTBN4 (E1064K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2585634	NM_020971.3(SPTBN4):c.1286T>A (p.Leu429Gln)	SPTBN4 (L429Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 2572987	NM_020971.3(SPTBN4):c.6016C>T (p.Arg2006Ter)	SPTBN4 (R2001* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
Select item 2503813	NM_020971.3(SPTBN4):c.4960C>T (p.Gln1654Ter)	SPTBN4 (Q1654* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
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 2411010	NM_020971.3(SPTBN4):c.3047C>A (p.Ala1016Asp)	SPTBN4 (A1011D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GUncertain significance
Select item 2376151	NM_020971.3(SPTBN4):c.2426G>A (p.Arg809His)	SPTBN4 (R804H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2365653	NM_020971.3(SPTBN4):c.1570G>T (p.Val524Leu)	SPTBN4 (V524L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2306965	NM_020971.3(SPTBN4):c.2999G>A (p.Arg1000His)	SPTBN4 (R1000H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GUncertain significance
Select item 1878626	NM_020971.3(SPTBN4):c.1897del (p.Ala633fs)	SPTBN4 (A633fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 1806026	NM_020971.3(SPTBN4):c.4862T>A (p.Phe1621Tyr)	SPTBN4 (F1621Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1709125	NM_020971.3(SPTBN4):c.455T>G (p.Leu152Arg)	SPTBN4 (L152R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	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 1695797	NM_020971.3(SPTBN4):c.6502C>G (p.Leu2168Val)	SPTBN4 (L2168V)	Single nucleotide variant (missense variant)	not provided +1 more	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	GUncertain significance
Select item 1333119	NM_020971.3(SPTBN4):c.3991G>A (p.Gly1331Ser)	SPTBN4 (G1331S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GBenign
Select item 1333118	NM_020971.3(SPTBN4):c.2136A>G (p.Arg712=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related condition +1 more	GBenign
Select item 1333117	NM_020971.3(SPTBN4):c.1713C>T (p.Asp571=)	SPTBN4	Single nucleotide variant (synonymous variant)	SPTBN4-related condition +1 more	GBenign
Select item 1333116	NM_020971.3(SPTBN4):c.785-29_785-28del	SPTBN4	Deletion (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GBenign
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 1286328	NM_020971.3(SPTBN4):c.112G>A (p.Ala38Thr)	SPTBN4 (A38T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GBenign
Select item 1281527	NM_020971.3(SPTBN4):c.912A>G (p.Val304=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1276432	NM_020971.3(SPTBN4):c.7026+30G>C	SPTBN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1247034	NM_020971.3(SPTBN4):c.7494-24G>C	SPTBN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1238408	NM_020971.3(SPTBN4):c.7320-34C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1224941	NM_020971.3(SPTBN4):c.3858-36G>A	SPTBN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1033562	NM_020971.3(SPTBN4):c.5929G>A (p.Val1977Met)	SPTBN4 (V1977M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 1033561	NM_020971.3(SPTBN4):c.1423G>A (p.Glu475Lys)	SPTBN4 (E475K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GUncertain significance
Select item 1030745	NM_020971.3(SPTBN4):c.3589C>T (p.Gln1197Ter)	SPTBN4 (Q1197*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GPathogenic
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 800778	NM_020971.3(SPTBN4):c.4584+1G>T	SPTBN4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic
Select item 768991	NM_020971.3(SPTBN4):c.1665+8C>G	SPTBN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 559549	NM_020971.3(SPTBN4):c.7453del (p.Ala2485fs)	SPTBN4 (A2485fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
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
Select item 559547	NM_020971.3(SPTBN4):c.1511G>A (p.Arg504Gln)	SPTBN4 (R504Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559545	NM_020971.3(SPTBN4):c.3820G>T (p.Glu1274Ter)	SPTBN4 (E1274*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 375254	NM_020971.3(SPTBN4):c.1597C>T (p.Gln533Ter)	SPTBN4 (Q533*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GPathogenic
Select item 218783	NM_020971.3(SPTBN4):c.2709G>A (p.Trp903Ter)	SPTBN4 (W903*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance

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Items: 50