ClinVar for Gene (Select 6305) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380731	NM_002972.4(SBF1):c.3325G>T (p.Ala1109Ser)	SBF1 (A1109S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375448	NM_002972.4(SBF1):c.5242C>T (p.Leu1748=)	SBF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3368306	NM_002972.4(SBF1):c.431T>C (p.Val144Ala)	SBF1 (V144A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365406	NM_002972.4(SBF1):c.3418A>G (p.Ser1140Gly)	SBF1 (S1140G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360159	NM_002972.4(SBF1):c.5210T>C (p.Val1737Ala)	SBF1 (V1711A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351218	NM_002972.4(SBF1):c.290G>A (p.Arg97His)	SBF1 (R97H +1 more)	Single nucleotide variant (missense variant)	SBF1-related disorder	GUncertain significance
Select item 3344237	NM_002972.4(SBF1):c.3827-2A>G	SBF1	Single nucleotide variant (intron variant +1 more)	SBF1-related disorder	GLikely pathogenic
Select item 3342588	NM_002972.4(SBF1):c.3106C>G (p.Arg1036Gly)	SBF1 (R1036G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342220	NM_002972.4(SBF1):c.1821dup (p.His608fs)	SBF1 (H608fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3340248	NM_002972.4(SBF1):c.4972C>T (p.Arg1658Cys)	SBF1 (R1632C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337543	NM_002972.4(SBF1):c.1750-3C>A	SBF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3337542	NM_002972.4(SBF1):c.2953T>A (p.Ser985Thr)	SBF1 (S985T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316244	NM_002972.4(SBF1):c.4985G>C (p.Trp1662Ser)	SBF1 (W1663S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316243	NM_002972.4(SBF1):c.2495G>A (p.Arg832His)	SBF1 (R832H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316242	NM_002972.4(SBF1):c.4654G>A (p.Asp1552Asn)	SBF1 (D1526N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316241	NM_002972.4(SBF1):c.1628C>T (p.Pro543Leu)	SBF1 (P543L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316240	NM_002972.4(SBF1):c.1072T>A (p.Ser358Thr)	SBF1 (S358T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316237	NM_002972.4(SBF1):c.2759C>T (p.Pro920Leu)	SBF1 (P921L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316236	NM_002972.4(SBF1):c.5677G>A (p.Ala1893Thr)	SBF1 (A1868T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257309	NM_002972.4(SBF1):c.4813-3C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3248100	NC_000022.10:g.(?_50892921)_(50913269_?)dup	SBF1	Duplication	not provided	GUncertain significance
Select item 3248099	NC_000022.10:g.(?_50885571)_(50895560_?)del	SBF1	Deletion	not provided	GPathogenic
Select item 3236221	NM_002972.4(SBF1):c.3571C>T (p.Arg1191Cys)	SBF1 (R1191C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3	GUncertain significance
Select item 3234617	NM_002972.4(SBF1):c.4719G>T (p.Gln1573His)	SBF1 (Q1547H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3158005	NM_002972.4(SBF1):c.734G>A (p.Arg245Gln)	SBF1 (R245Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158004	NM_002972.4(SBF1):c.665A>G (p.Asn222Ser)	SBF1 (N223S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158003	NM_002972.4(SBF1):c.560C>T (p.Ser187Phe)	SBF1 (S187F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158002	NM_002972.4(SBF1):c.5125C>T (p.Arg1709Cys)	SBF1 (R1683C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158001	NM_002972.4(SBF1):c.4969A>G (p.Arg1657Gly)	SBF1 (R1658G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158000	NM_002972.4(SBF1):c.4634G>A (p.Arg1545His)	SBF1 (R1545H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157999	NM_002972.4(SBF1):c.4280T>C (p.Leu1427Pro)	SBF1 (L1402P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157998	NM_002972.4(SBF1):c.4153G>C (p.Val1385Leu)	SBF1 (V1360L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157997	NM_002972.4(SBF1):c.3401G>C (p.Gly1134Ala)	SBF1 (G1135A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157996	NM_002972.4(SBF1):c.3377G>T (p.Cys1126Phe)	SBF1 (C1127F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157995	NM_002972.4(SBF1):c.3286T>A (p.Ser1096Thr)	SBF1 (S1097T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157994	NM_002972.4(SBF1):c.3029A>G (p.Gln1010Arg)	SBF1 (Q1010R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157993	NM_002972.4(SBF1):c.3007A>G (p.Ser1003Gly)	SBF1 (S1003G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157991	NM_002972.4(SBF1):c.2429C>T (p.Thr810Met)	SBF1 (T811M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157990	NM_002972.4(SBF1):c.2279A>G (p.Tyr760Cys)	SBF1 (Y761C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3157989	NM_002972.4(SBF1):c.2215C>T (p.Arg739Cys)	SBF1 (R739C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157988	NM_002972.4(SBF1):c.20A>G (p.Tyr7Cys)	SBF1 (Y7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157987	NM_002972.4(SBF1):c.2017C>T (p.His673Tyr)	SBF1 (H673Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157986	NM_002972.4(SBF1):c.1915G>T (p.Asp639Tyr)	SBF1 (D640Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157985	NM_002972.4(SBF1):c.1622C>T (p.Ser541Leu)	SBF1 (S541L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157984	NM_002972.4(SBF1):c.1465G>T (p.Val489Leu)	SBF1 (V489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157983	NM_002972.4(SBF1):c.1385G>A (p.Arg462His)	SBF1 (R462H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157981	NM_002972.4(SBF1):c.1351G>A (p.Ala451Thr)	SBF1 (A452T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157980	NM_002972.4(SBF1):c.1093A>G (p.Lys365Glu)	SBF1 (K365E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067254	NM_002972.4(SBF1):c.5508G>A (p.Ala1836=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063689	NM_002972.4(SBF1):c.5443A>G (p.Lys1815Glu)	SBF1 (K1789E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 3052891	NM_002972.4(SBF1):c.3126G>A (p.Lys1042=)	SBF1	Single nucleotide variant (synonymous variant)	SBF1-related disorder	GLikely benign
Select item 3046494	NM_002972.4(SBF1):c.4998C>T (p.Asp1666=)	SBF1	Single nucleotide variant (synonymous variant)	SBF1-related disorder	GLikely benign
Select item 3035837	NM_002972.4(SBF1):c.2016G>A (p.Glu672=)	SBF1	Single nucleotide variant (synonymous variant)	SBF1-related disorder	GLikely benign
Select item 3033647	NM_002972.4(SBF1):c.489C>T (p.Cys163=)	SBF1	Single nucleotide variant (synonymous variant)	SBF1-related disorder	GLikely benign
Select item 3026666	NM_002972.4(SBF1):c.3056A>C (p.Asp1019Ala)	SBF1 (D1019A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026414	NM_002972.4(SBF1):c.2088C>T (p.Ala696=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3026317	NM_002972.4(SBF1):c.1582C>T (p.Pro528Ser)	SBF1 (P528S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 3023371	NM_002972.4(SBF1):c.2559C>T (p.Val853=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023137	NM_002972.4(SBF1):c.2569+9G>A	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022843	NM_002972.4(SBF1):c.3904+9C>G	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022178	NM_002972.4(SBF1):c.1900-14C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021324	NM_002972.4(SBF1):c.2877T>C (p.Ala959=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021153	NM_002972.4(SBF1):c.2128-15G>A	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020282	NM_002972.4(SBF1):c.900C>T (p.Leu300=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020226	NM_002972.4(SBF1):c.1969-9C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016231	NM_002972.4(SBF1):c.5380C>T (p.Leu1794=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016126	NM_002972.4(SBF1):c.3462G>A (p.Pro1154=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015745	NM_002972.4(SBF1):c.5130C>T (p.Leu1710=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012804	NM_002972.4(SBF1):c.5584-15C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011505	NM_002972.4(SBF1):c.2871G>T (p.Pro957=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010905	NM_002972.4(SBF1):c.1440G>A (p.Pro480=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010293	NM_002972.4(SBF1):c.2644-7C>G	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010025	NM_002972.4(SBF1):c.3210C>A (p.Arg1070=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009829	NM_002972.4(SBF1):c.4809A>G (p.Ala1603=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009766	NM_002972.4(SBF1):c.3522T>C (p.Ser1174=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007221	NM_002972.4(SBF1):c.1333-16C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007136	NM_002972.4(SBF1):c.3156C>T (p.Ser1052=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003916	NM_002972.4(SBF1):c.2466A>C (p.Val822=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003875	NM_002972.4(SBF1):c.3284-9C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003802	NM_002972.4(SBF1):c.3688+12G>A	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003317	NM_002972.4(SBF1):c.3147-16C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003189	NM_002972.4(SBF1):c.1845C>G (p.Val615=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003188	NM_002972.4(SBF1):c.2238G>C (p.Val746=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002887	NM_002972.4(SBF1):c.3827-12C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001565	NM_002972.4(SBF1):c.2697C>T (p.Gly899=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001435	NM_002972.4(SBF1):c.4086+18G>A	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001341	NM_002972.4(SBF1):c.2700G>A (p.Leu900=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000380	NM_002972.4(SBF1):c.3689-7C>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000122	NM_002972.4(SBF1):c.3904+16T>C	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999830	NM_002972.4(SBF1):c.4086+14G>T	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999705	NM_002972.4(SBF1):c.4002G>A (p.Gln1334=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999206	NM_002972.4(SBF1):c.5363+18A>G	SBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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