ClinVar for MedGen (Select 1794167) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068374	NM_003128.3(SPTBN1):c.539T>C (p.Leu180Pro)	SPTBN1 (L167P +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3067892	NM_003128.3(SPTBN1):c.6599T>G (p.Met2200Arg)	SPTBN1, SPTBN1-AS2 (M2200R)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3066027	NM_003128.3(SPTBN1):c.2489G>T (p.Arg830Leu)	SPTBN1 (R817L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3065850	NM_003128.3(SPTBN1):c.4805C>G (p.Ala1602Gly)	SPTBN1 (A1589G +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3065849	NM_003128.3(SPTBN1):c.3278C>G (p.Thr1093Ser)	SPTBN1 (T1080S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3065485	NM_003128.3(SPTBN1):c.6988C>T (p.Pro2330Ser)	SPTBN1, SPTBN1-AS2 (P2330S)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3064739	NM_003128.3(SPTBN1):c.1493G>A (p.Arg498His)	SPTBN1 (R485H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 3062034	NM_003128.3(SPTBN1):c.3941dup (p.Leu1314fs)	SPTBN1 (L1301fs +1 more)	Duplication (frameshift variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 2690153	NM_003128.3(SPTBN1):c.5270C>T (p.Thr1757Met)	SPTBN1 (T1744M +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690152	NM_003128.3(SPTBN1):c.2431C>T (p.Pro811Ser)	SPTBN1 (P798S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690151	NM_003128.3(SPTBN1):c.1328G>A (p.Arg443His)	SPTBN1 (R430H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690150	NM_003128.3(SPTBN1):c.1573G>A (p.Glu525Lys)	SPTBN1 (E512K +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2690149	NM_003128.3(SPTBN1):c.3728C>T (p.Ser1243Leu)	SPTBN1 (S1230L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2674610	NM_003128.3(SPTBN1):c.176C>T (p.Thr59Ile)	SPTBN1 (T46I +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 2664976	NM_003128.3(SPTBN1):c.6898C>T (p.Gln2300Ter)	SPTBN1, SPTBN1-AS2 (Q2300*)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2663953	NM_003128.3(SPTBN1):c.553A>T (p.Met185Leu)	SPTBN1 (M172L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2627595	NM_003128.3(SPTBN1):c.3011A>G (p.Asp1004Gly)	SPTBN1 (D1004G +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2582659	NM_003128.3(SPTBN1):c.6883A>G (p.Met2295Val)	SPTBN1, SPTBN1-AS2 (M2295V)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2582581	NM_003128.3(SPTBN1):c.641A>G (p.Lys214Arg)	SPTBN1 (K201R +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2581431	NM_003128.3(SPTBN1):c.5304_5305del (p.Gly1769fs)	SPTBN1 (G1756fs +1 more)	Deletion (frameshift variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 2499489	NM_003128.3(SPTBN1):c.3844C>T (p.Gln1282Ter)	SPTBN1 (Q1269* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 2444247	NM_003128.3(SPTBN1):c.3928C>T (p.His1310Tyr)	SPTBN1 (H1297Y +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2444107	NM_003128.3(SPTBN1):c.865C>T (p.Arg289Ter)	SPTBN1 (R276* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 2442055	NM_003128.3(SPTBN1):c.7024C>G (p.Pro2342Ala)	SPTBN1, SPTBN1-AS2 (P2342A)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2441692	NM_003128.3(SPTBN1):c.4634T>C (p.Phe1545Ser)	SPTBN1 (F1532S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2438401	NM_003128.3(SPTBN1):c.176C>G (p.Thr59Ser)	SPTBN1 (T46S +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 2436458	NM_003128.3(SPTBN1):c.6937G>A (p.Val2313Met)	SPTBN1, SPTBN1-AS2 (V2313M)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2436457	NM_003128.3(SPTBN1):c.2207G>T (p.Arg736Leu)	SPTBN1 (R723L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2436456	NM_003128.3(SPTBN1):c.4970C>T (p.Ala1657Val)	SPTBN1 (A1644V +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 2431609	NM_003128.3(SPTBN1):c.2581T>C (p.Cys861Arg)	SPTBN1 (C848R +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1895412	NM_003128.3(SPTBN1):c.772G>A (p.Val258Met)	SPTBN1 (V245M +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1805969	NM_003128.3(SPTBN1):c.1429C>T (p.Arg477Cys)	SPTBN1 (R464C +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1804061	NM_003128.3(SPTBN1):c.5961+2T>C	SPTBN1	Single nucleotide variant (splice donor variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1801944	NM_003128.3(SPTBN1):c.2914C>T (p.Arg972Trp)	SPTBN1 (R959W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1727059	NM_003128.3(SPTBN1):c.430C>T (p.Arg144Trp)	SPTBN1 (R131W +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1710232	NM_003128.3(SPTBN1):c.666T>A (p.Phe222Leu)	SPTBN1 (F209L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1709340	NM_003128.3(SPTBN1):c.6194C>G (p.Ser2065Cys)	SPTBN1 (S2052C +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1699174	NM_003128.3(SPTBN1):c.1226C>T (p.Ala409Val)	SPTBN1 (A396V +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely benign
Select item 1685454	NM_003128.3(SPTBN1):c.1043G>C (p.Arg348Pro)	SPTBN1 (R335P +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1685453	NM_003128.3(SPTBN1):c.586C>T (p.His196Tyr)	SPTBN1 (H183Y +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1683604	NM_003128.3(SPTBN1):c.3510_3529dup (p.Asp1177fs)	SPTBN1 (D1164fs +1 more)	Duplication (frameshift variant)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1343117	NM_003128.3(SPTBN1):c.3909C>G (p.Tyr1303Ter)	SPTBN1 (Y1290* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GLikely pathogenic
Select item 1333632	NM_003128.3(SPTBN1):c.5746T>C (p.Phe1916Leu)	SPTBN1 (F1903L +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1333572	NM_003128.3(SPTBN1):c.4751G>A (p.Arg1584His)	SPTBN1 (R1571H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1321304	NM_003128.3(SPTBN1):c.2471T>C (p.Leu824Pro)	SPTBN1 (L811P +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1321303	NM_003128.3(SPTBN1):c.5708G>A (p.Arg1903His)	SPTBN1 (R1890H +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1256058	NM_003128.3(SPTBN1):c.469T>G (p.Phe157Val)	SPTBN1 (F144V +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GUncertain significance
Select item 1195999	NM_003128.3(SPTBN1):c.5656G>C (p.Glu1886Gln)	SPTBN1 (E1886Q +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1195998	NM_003128.3(SPTBN1):c.2674G>T (p.Glu892Ter)	SPTBN1 (E892* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1195997	NM_003128.3(SPTBN1):c.749T>G (p.Leu250Arg)	SPTBN1 (L250R +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1195996	NM_003128.3(SPTBN1):c.614G>A (p.Gly205Asp)	SPTBN1 (G205D +1 more)	Single nucleotide variant (missense variant)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic
Select item 1195995	NM_003128.3(SPTBN1):c.549C>A (p.Cys183Ter)	SPTBN1 (C183* +1 more)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 52