TSPAN12[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 276

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 358751	NM_012338.4(TSPAN12):c.*1270T>G	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GBenign
Select item 358752	NM_012338.4(TSPAN12):c.*1243A>T	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GBenign
Select item 909304	NM_012338.4(TSPAN12):c.*1240A>G	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 358753	NM_012338.4(TSPAN12):c.*1139A>T	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GBenign
Select item 358754	NM_012338.4(TSPAN12):c.1067_1068del	TSPAN12	Deletion (3 prime UTR variant)	Familial exudative vitreoretinopathy	GLikely benign
Select item 358755	NM_012338.4(TSPAN12):c.*998G>A	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GBenign
Select item 909305	NM_012338.4(TSPAN12):c.*887C>G	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 358756	NM_012338.4(TSPAN12):c.*553C>G	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 358757	NM_012338.4(TSPAN12):c.*334A>T	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GBenign
Select item 909306	NM_012338.4(TSPAN12):c.*329G>A	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 910278	NM_012338.4(TSPAN12):c.*126T>C	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 910279	NM_012338.4(TSPAN12):c.*104C>A	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 358758	NM_012338.4(TSPAN12):c.*103C>A	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GUncertain significance
Select item 358759	NM_012338.4(TSPAN12):c.*40T>C	TSPAN12	Single nucleotide variant (3 prime UTR variant)	Exudative vitreoretinopathy 5	GLikely benign
Select item 358760	NM_012338.4(TSPAN12):c.*39C>T	TSPAN12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 2025627	NM_012338.4(TSPAN12):c.916del (p.Ter306LysextTer?)	TSPAN12	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1440864	NM_012338.4(TSPAN12):c.907GAG[1] (p.Glu304del)	TSPAN12 (E304del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1948726	NM_012338.4(TSPAN12):c.909G>A (p.Glu303=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709979	NM_012338.4(TSPAN12):c.905T>G (p.Met302Arg)	TSPAN12 (M302R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900673	NM_012338.4(TSPAN12):c.897C>A (p.His299Gln)	TSPAN12 (H299Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473031	NM_012338.4(TSPAN12):c.882C>G (p.Asn294Lys)	TSPAN12 (N294K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462314	NM_012338.4(TSPAN12):c.877G>A (p.Ala293Thr)	TSPAN12 (A293T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003287	NM_012338.4(TSPAN12):c.875T>A (p.Met292Lys)	TSPAN12 (M292K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 944541	NM_012338.4(TSPAN12):c.875T>C (p.Met292Thr)	TSPAN12 (M292T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1565951	NM_012338.4(TSPAN12):c.870A>G (p.Thr290=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726065	NM_012338.4(TSPAN12):c.868A>G (p.Thr290Ala)	TSPAN12 (T290A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2966377	NM_012338.4(TSPAN12):c.840A>G (p.Lys280=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708204	NM_012338.4(TSPAN12):c.833T>C (p.Leu278Pro)	TSPAN12 (L278P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 836016	NM_012338.4(TSPAN12):c.832C>A (p.Leu278Met)	TSPAN12 (L278M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 910280	NM_012338.4(TSPAN12):c.825A>G (p.Ser275=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1614467	NM_012338.4(TSPAN12):c.816A>C (p.Ser272=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722951	NM_012338.4(TSPAN12):c.812T>C (p.Leu271Pro)	TSPAN12 (L271P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019050	NM_012338.4(TSPAN12):c.810C>A (p.His270Gln)	TSPAN12 (H270Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121934	NM_012338.4(TSPAN12):c.807G>T (p.Gln269His)	TSPAN12 (Q269H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523069	NM_012338.4(TSPAN12):c.801C>G (p.Asn267Lys)	TSPAN12 (N267K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041159	NM_012338.4(TSPAN12):c.800A>G (p.Asn267Ser)	TSPAN12 (N267S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002883	NM_012338.4(TSPAN12):c.782T>C (p.Met261Thr)	TSPAN12 (M261T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160571	NM_012338.4(TSPAN12):c.774C>T (p.Asp258=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495527	NM_012338.4(TSPAN12):c.767G>A (p.Gly256Glu)	TSPAN12 (G256E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833662	NM_012338.4(TSPAN12):c.765G>A (p.Pro255=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 260253	NM_012338.4(TSPAN12):c.765G>T (p.Pro255=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 848974	NM_012338.4(TSPAN12):c.763C>G (p.Pro255Ala)	TSPAN12 (P255A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944738	NM_012338.4(TSPAN12):c.762G>T (p.Glu254Asp)	TSPAN12 (E254D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056585	NM_012338.4(TSPAN12):c.760G>A (p.Glu254Lys)	TSPAN12 (E254K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358014	NM_012338.4(TSPAN12):c.745T>C (p.Tyr249His)	TSPAN12 (Y249H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1633905	NM_012338.4(TSPAN12):c.735C>T (p.Leu245=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 31006	NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro)	TSPAN12 (L245P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2303720	NM_012338.4(TSPAN12):c.724A>G (p.Ile242Val)	TSPAN12 (I242V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072199	NM_012338.4(TSPAN12):c.723C>A (p.Thr241=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 319	NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro)	TSPAN12 (A237P)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5	GPathogenic
Select item 1515730	NM_012338.4(TSPAN12):c.700C>T (p.Gln234Ter)	TSPAN12 (Q234*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1472273	NM_012338.4(TSPAN12):c.700C>A (p.Gln234Lys)	TSPAN12 (Q234K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848973	NM_012338.4(TSPAN12):c.695T>C (p.Val232Ala)	TSPAN12 (V232A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939827	NM_012338.4(TSPAN12):c.689T>C (p.Ile230Thr)	TSPAN12 (I230T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525828	NM_012338.4(TSPAN12):c.688A>C (p.Ile230Leu)	TSPAN12 (I230L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1505882	NM_012338.4(TSPAN12):c.688A>G (p.Ile230Val)	TSPAN12 (I230V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940990	NM_012338.4(TSPAN12):c.682A>G (p.Ile228Val)	TSPAN12 (I228V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030249	NM_012338.4(TSPAN12):c.667C>A (p.Leu223Met)	TSPAN12 (L223M)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5 +1 more	GUncertain significance
Select item 3000569	NM_012338.4(TSPAN12):c.660G>T (p.Leu220=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1068154	NM_012338.4(TSPAN12):c.641_642insTTTTTTTTTTNNNNNNNNNNATTACAGGCGTGAGCCACCGCGCCCGGCCAATGTATTCCTTTTT (p.Leu214fs)	TSPAN12 (L214fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1657487	NM_012338.4(TSPAN12):c.640T>C (p.Leu214=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565585	NM_012338.4(TSPAN12):c.636C>T (p.Ser212=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043502	NM_012338.4(TSPAN12):c.630G>A (p.Met210Ile)	TSPAN12 (M210I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026378	NM_012338.4(TSPAN12):c.614G>A (p.Gly205Asp)	TSPAN12 (G205D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1654989	NM_012338.4(TSPAN12):c.613-15G>A	TSPAN12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933839	NM_012338.4(TSPAN12):c.613-18C>T	TSPAN12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 155097	GRCh38/hg38 7q31.31(chr7:120795527-120842557)x1	LOC129999198, TSPAN12	Copy number loss	See cases	GPathogenic
Select item 1165749	NM_012338.4(TSPAN12):c.612+11A>G	TSPAN12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1131052	NM_012338.4(TSPAN12):c.612+8C>T	TSPAN12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946695	NM_012338.4(TSPAN12):c.612+4A>G	TSPAN12	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1687611	NM_012338.4(TSPAN12):c.612+1G>T	TSPAN12	Single nucleotide variant (splice donor variant)	Exudative vitreoretinopathy 5	GLikely pathogenic
Select item 1302337	NM_012338.4(TSPAN12):c.602T>G (p.Leu201Arg)	TSPAN12 (L201R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958999	NM_012338.4(TSPAN12):c.587A>G (p.Glu196Gly)	TSPAN12 (E196G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370740	NM_012338.4(TSPAN12):c.581del (p.His194fs)	TSPAN12 (H194fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1520483	NM_012338.4(TSPAN12):c.578C>A (p.Ala193Asp)	TSPAN12 (A193D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719736	NM_012338.4(TSPAN12):c.577G>A (p.Ala193Thr)	TSPAN12 (A193T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722175	NM_012338.4(TSPAN12):c.569C>T (p.Ser190Phe)	TSPAN12 (S190F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804349	NM_012338.4(TSPAN12):c.566G>A (p.Cys189Tyr)	TSPAN12 (C189Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 320	NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg)	TSPAN12 (G188R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468949	NM_012338.4(TSPAN12):c.552A>C (p.Arg184Ser)	TSPAN12 (R184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951038	NM_012338.4(TSPAN12):c.547G>A (p.Val183Ile)	TSPAN12 (V183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1071783	NM_012338.4(TSPAN12):c.547del (p.Val183fs)	TSPAN12 (V183fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 998981	NM_012338.4(TSPAN12):c.547G>T (p.Val183Phe)	TSPAN12 (V183F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457167	NM_012338.4(TSPAN12):c.543C>A (p.Cys181Ter)	TSPAN12 (C181*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 236067	NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)	TSPAN12 (C181F)	Single nucleotide variant (missense variant)	Atrophia bulborum hereditaria +3 more	GPathogenic
Select item 2414451	NM_012338.4(TSPAN12):c.540C>T (p.Ser180=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814407	NM_012338.4(TSPAN12):c.525C>T (p.Asp175=)	TSPAN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466761	NM_012338.4(TSPAN12):c.514A>T (p.Thr172Ser)	TSPAN12 (T172S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1099474	NM_012338.4(TSPAN12):c.510A>G (p.Glu170=)	TSPAN12	Single nucleotide variant (synonymous variant)	TSPAN12-related condition +1 more	GLikely benign
Select item 450246	NM_012338.4(TSPAN12):c.509A>T (p.Glu170Val)	TSPAN12 (E170V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719387	NM_012338.4(TSPAN12):c.502T>C (p.Trp168Arg)	TSPAN12 (W168R)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 5 +1 more	GConflicting classifications of pathogenicity
Select item 1378406	NM_012338.4(TSPAN12):c.493T>C (p.Phe165Leu)	TSPAN12 (F165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468767	NM_012338.4(TSPAN12):c.491A>G (p.Tyr164Cys)	TSPAN12 (Y164C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3