ClinVar for Gene (Select 7287) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382016	NM_003322.6(TULP1):c.310del (p.Glu104fs)	TULP1 (E104fs)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 15 +1 more	GPathogenic
Select item 3382015	NM_003322.6(TULP1):c.1592C>T (p.Ala531Val)	TULP1 (A478V +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15 +1 more	GLikely pathogenic
Select item 3381791	NM_003322.6(TULP1):c.822G>C (p.Lys274Asn)	TULP1 (K221N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381778	NM_003322.6(TULP1):c.1495+5G>A	TULP1	Single nucleotide variant (intron variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381777	NM_003322.6(TULP1):c.1561C>T (p.Pro521Ser)	TULP1 (P468S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381776	NM_003322.6(TULP1):c.1138A>G (p.Thr380Ala)	TULP1 (T327A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3346656	NM_003322.6(TULP1):c.185C>G (p.Pro62Arg)	TULP1 (P62R)	Single nucleotide variant (missense variant)	TULP1-related disorder	GUncertain significance
Select item 3341376	NM_003322.6(TULP1):c.159C>A (p.Cys53Ter)	TULP1 (C53*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 15	GLikely pathogenic
Select item 3337720	NM_003322.6(TULP1):c.178C>T (p.Arg60Trp)	TULP1 (R60W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3330272	NM_003322.6(TULP1):c.1324G>A (p.Ala442Thr)	TULP1 (A442T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330271	NM_003322.6(TULP1):c.211C>T (p.Arg71Trp)	TULP1 (R71W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330270	NM_003322.6(TULP1):c.637C>T (p.Pro213Ser)	TULP1 (P213S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330269	NM_003322.6(TULP1):c.83C>T (p.Pro28Leu)	TULP1 (P28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246168	NC_000006.11:g.(?_35473498)_(35473650_?)del	TULP1	Deletion	not provided	GPathogenic
Select item 3236015	NM_003322.6(TULP1):c.1207C>G (p.Leu403Val)	TULP1 (L350V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 14	GUncertain significance
Select item 3184860	NM_003322.6(TULP1):c.688A>T (p.Ser230Cys)	TULP1 (S230C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184857	NM_003322.6(TULP1):c.1342G>A (p.Val448Met)	TULP1 (V395M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184856	NM_003322.6(TULP1):c.1328G>A (p.Ser443Asn)	TULP1 (S443N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065889	NM_003322.6(TULP1):c.283C>T (p.Pro95Ser)	TULP1 (P95S)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 15	GUncertain significance
Select item 3064522	NM_003322.6(TULP1):c.1475A>G (p.Gln492Arg)	TULP1 (Q439R +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15	GUncertain significance
Select item 3064521	NM_003322.6(TULP1):c.1135T>C (p.Phe379Leu)	TULP1 (F326L +1 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 15	GUncertain significance
Select item 3053722	NM_003322.6(TULP1):c.1324-7A>G	TULP1	Single nucleotide variant (intron variant)	TULP1-related disorder	GLikely benign
Select item 3027741	NM_003322.6(TULP1):c.369G>C (p.Glu123Asp)	TULP1 (E123D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027740	NM_003322.6(TULP1):c.752AGG[3] (p.Glu254del)	TULP1 (E201del +1 more)	Microsatellite (inframe_deletion)	Retinal dystrophy	GBenign
Select item 3027738	NM_003322.6(TULP1):c.791A>G (p.Gln264Arg)	TULP1 (Q211R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027737	NM_003322.6(TULP1):c.1060A>G (p.Ile354Val)	TULP1 (I301V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027736	NM_003322.6(TULP1):c.1147G>C (p.Asp383His)	TULP1 (D330H +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027735	NM_003322.6(TULP1):c.1234G>A (p.Val412Met)	TULP1 (V359M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027734	NM_003322.6(TULP1):c.1285A>C (p.Ser429Arg)	TULP1 (S376R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027733	NM_003322.6(TULP1):c.1378G>A (p.Glu460Lys)	TULP1 (E407K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027732	NM_003322.6(TULP1):c.1396C>T (p.Pro466Ser)	TULP1 (P413S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027731	NM_003322.6(TULP1):c.1457C>A (p.Ala486Asp)	TULP1 (A433D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3022641	NM_003322.6(TULP1):c.675G>T (p.Leu225=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017666	NM_003322.6(TULP1):c.1356C>T (p.Asn452=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016048	NM_003322.6(TULP1):c.459A>T (p.Ala153=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015262	NM_003322.6(TULP1):c.366G>A (p.Glu122=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014004	NM_003322.6(TULP1):c.1495+17C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012681	NM_003322.6(TULP1):c.191-15dup	TULP1	Duplication (intron variant)	not provided	GBenign
Select item 3011026	NM_003322.6(TULP1):c.981C>T (p.His327=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006442	NM_003322.6(TULP1):c.138G>T (p.Thr46=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005726	NM_003322.6(TULP1):c.111G>T (p.Pro37=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005519	NM_003322.6(TULP1):c.440del (p.Leu147fs)	TULP1 (L94fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3003529	NM_003322.6(TULP1):c.350-20T>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002574	NM_003322.6(TULP1):c.1002G>A (p.Val334=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997773	NM_003322.6(TULP1):c.99+9C>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997326	NM_003322.6(TULP1):c.1140G>C (p.Thr380=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996279	NM_003322.6(TULP1):c.942G>A (p.Lys314=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995022	NM_003322.6(TULP1):c.225C>A (p.Ser75=)	TULP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992896	NM_003322.6(TULP1):c.601+7C>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986358	NM_003322.6(TULP1):c.339C>T (p.Asp113=)	TULP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2982678	NM_003322.6(TULP1):c.1496-1G>C	TULP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2979214	NM_003322.6(TULP1):c.349+7G>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975211	NM_003322.6(TULP1):c.962A>G (p.Tyr321Cys)	TULP1 (Y268C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2973671	NM_003322.6(TULP1):c.285C>G (p.Pro95=)	TULP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972982	NM_003322.6(TULP1):c.188_190+10dup	TULP1	Duplication (splice donor variant)	not provided	GLikely benign
Select item 2961187	NM_003322.6(TULP1):c.100-18_100-17del	TULP1	Deletion (intron variant)	not provided	GLikely benign
Select item 2960992	NM_003322.6(TULP1):c.48-5C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958143	NM_003322.6(TULP1):c.735G>A (p.Ala245=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956210	NM_003322.6(TULP1):c.318T>C (p.Phe106=)	TULP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919757	NM_003322.6(TULP1):c.888C>G (p.Leu296=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919105	NM_003322.6(TULP1):c.1248T>C (p.Arg416=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918376	NM_003322.6(TULP1):c.822+9C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917870	NM_003322.6(TULP1):c.1224+8C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916561	NM_003322.6(TULP1):c.1000-6C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915319	NM_003322.6(TULP1):c.719-6G>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912219	NM_003322.6(TULP1):c.1593C>A (p.Ala531=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912191	NM_003322.6(TULP1):c.453C>T (p.Ser151=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909651	NM_003322.6(TULP1):c.303C>T (p.Asp101=)	TULP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2908557	NM_003322.6(TULP1):c.873C>T (p.Pro291=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908362	NM_003322.6(TULP1):c.1038G>A (p.Lys346=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907856	NM_003322.6(TULP1):c.499+14G>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907367	NM_003322.6(TULP1):c.718+23G>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2907300	NM_003322.6(TULP1):c.350-17A>G	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907152	NM_003322.6(TULP1):c.1332C>T (p.Asp444=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906502	NM_003322.6(TULP1):c.25C>T (p.Arg9Ter)	TULP1 (R9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2894936	NM_003322.6(TULP1):c.1386CAA[1] (p.Asn463del)	TULP1 (N410del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2888771	NM_003322.6(TULP1):c.499+14G>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888478	NM_003322.6(TULP1):c.1267G>A (p.Val423Ile)	TULP1 (V423I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887809	NM_003322.6(TULP1):c.999+9_999+10dup	TULP1	Duplication (intron variant)	not provided	GLikely benign
Select item 2883710	NM_003322.6(TULP1):c.373G>T (p.Glu125Ter)	TULP1 (E125* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2882523	NM_003322.6(TULP1):c.99+12C>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881684	NM_003322.6(TULP1):c.191-4T>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881572	NM_003322.6(TULP1):c.499+13_499+21del	TULP1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2878367	NM_003322.6(TULP1):c.1143C>T (p.Val381=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877993	NM_003322.6(TULP1):c.191-16C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877438	NM_003322.6(TULP1):c.999+14G>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874576	NM_003322.6(TULP1):c.1137C>T (p.Phe379=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870798	NM_003322.6(TULP1):c.1113-9T>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868821	NM_003322.6(TULP1):c.1434C>T (p.Asn478=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868528	NM_003322.6(TULP1):c.1360_1361del (p.Thr454fs)	TULP1 (T401fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2865939	NM_003322.6(TULP1):c.165G>A (p.Thr55=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863936	NM_003322.6(TULP1):c.1071C>T (p.Thr357=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862802	NM_003322.6(TULP1):c.1323+12A>C	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862186	NM_003322.6(TULP1):c.771G>T (p.Thr257=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861528	NM_003322.6(TULP1):c.718+15C>A	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861133	NM_003322.6(TULP1):c.99+12C>T	TULP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860220	NM_003322.6(TULP1):c.1009T>C (p.Leu337=)	TULP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860199	NM_003322.6(TULP1):c.828+2_828+3del	TULP1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2859998	NM_003322.6(TULP1):c.100-1G>T	TULP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2859464	NM_003322.6(TULP1):c.1386dup (p.Asn463fs)	TULP1 (N410fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic

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