ClinVar for Gene (Select 51151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164886	NM_016180.5(SLC45A2):c.872A>G (p.Lys291Arg)	SLC45A2 (K291R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3164884	NM_016180.5(SLC45A2):c.281A>G (p.His94Arg)	SLC45A2 (H94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3164883	NM_016180.5(SLC45A2):c.1447G>C (p.Val483Leu)	SLC45A2 (V483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 3062849	GRCh37/hg19 5p13.2(chr5:33955464-34058555)x1	AMACR, C1QTNF3 +1 more	Copy number loss	not specified	GPathogenic
Select item 3062366	NM_016180.5(SLC45A2):c.301C>G (p.Arg101Gly)	SLC45A2 (R101G)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 3062365	NM_016180.5(SLC45A2):c.1304C>A (p.Ser435Tyr)	SLC45A2 (S435Y)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	GUncertain significance
Select item 3062089	NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)	SLC45A2 (Y422*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 4	GPathogenic
Select item 3030706	NM_016180.5(SLC45A2):c.1131C>T (p.Asn377=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	SLC45A2-related disorder	GLikely benign
Select item 3024364	GRCh38/hg38 5p13.2(chr5:33977416-34745466)	AMACR, C1QTNF3 +17 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3013869	NM_016180.5(SLC45A2):c.1470C>T (p.Val490=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008976	NM_016180.5(SLC45A2):c.563-20_563-19del	SLC45A2	Deletion (intron variant)	not provided	GLikely benign
Select item 3008657	NM_016180.5(SLC45A2):c.990C>T (p.Ala330=)	SLC45A2 (L222F)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005656	NM_016180.5(SLC45A2):c.303C>T (p.Arg101=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004378	NM_016180.5(SLC45A2):c.889-12G>A	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000428	NM_016180.5(SLC45A2):c.546C>T (p.Tyr182=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996919	NM_016180.5(SLC45A2):c.1029C>A (p.Gly343=)	SLC45A2 (P235T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996512	NM_016180.5(SLC45A2):c.1161T>C (p.Phe387=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996270	NM_016180.5(SLC45A2):c.1068C>T (p.Asn356=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994662	NM_016180.5(SLC45A2):c.1157-10C>A	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994125	NM_016180.5(SLC45A2):c.483G>A (p.Gly161=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992517	NM_016180.5(SLC45A2):c.889-6T>C	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990934	NM_016180.5(SLC45A2):c.1584T>C (p.Tyr528=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989822	NM_016180.5(SLC45A2):c.249G>A (p.Leu83=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987282	NM_016180.5(SLC45A2):c.18G>A (p.Gly6=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985860	NM_016180.5(SLC45A2):c.1314G>T (p.Leu438=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985794	NM_016180.5(SLC45A2):c.1156+16T>C	SLC45A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2982245	NM_016180.5(SLC45A2):c.581del (p.Gly194fs)	SLC45A2 (G194fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2981827	NM_016180.5(SLC45A2):c.1266C>T (p.Tyr422=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979999	NM_016180.5(SLC45A2):c.1149T>G (p.Leu383=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976981	NM_016180.5(SLC45A2):c.777A>G (p.Pro259=)	SLC45A2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2974906	NM_016180.5(SLC45A2):c.1404C>T (p.Ser468=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970315	NM_016180.5(SLC45A2):c.385+11_385+24del	SLC45A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2963397	NM_016180.5(SLC45A2):c.1033-6T>C	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962616	NM_016180.5(SLC45A2):c.63C>T (p.Pro21=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962129	NM_016180.5(SLC45A2):c.1311C>T (p.Thr437=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957835	NM_016180.5(SLC45A2):c.1305C>A (p.Ser435=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918533	NM_016180.5(SLC45A2):c.702G>A (p.Leu234=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915411	NM_016180.5(SLC45A2):c.269C>A (p.Ser90Ter)	SLC45A2 (S90*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2910187	NM_016180.5(SLC45A2):c.886C>T (p.Gln296Ter)	SLC45A2 (Q296*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2907359	NM_016180.5(SLC45A2):c.869dup (p.Asn290fs)	SLC45A2 (N290fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2905186	NM_016180.5(SLC45A2):c.1500A>G (p.Thr500=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903728	NM_016180.5(SLC45A2):c.219G>A (p.Val73=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893945	NM_016180.5(SLC45A2):c.1212A>T (p.Gly404=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886811	NM_016180.5(SLC45A2):c.1101C>T (p.Val367=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881185	NM_016180.5(SLC45A2):c.258del (p.Val87fs)	SLC45A2 (V87fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2881111	NM_016180.5(SLC45A2):c.1033-19C>G	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874759	NM_016180.5(SLC45A2):c.1322_1323del (p.Val441fs)	SLC45A2 (V441fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2874346	NM_016180.5(SLC45A2):c.333C>A (p.Val111=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873482	NM_016180.5(SLC45A2):c.1156+19T>G	SLC45A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2872794	NM_016180.5(SLC45A2):c.585C>T (p.Tyr195=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872488	NM_016180.5(SLC45A2):c.1086C>T (p.Ile362=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871678	NM_016180.5(SLC45A2):c.1575_1578del (p.Phe525fs)	SLC45A2 (F525fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2871624	NM_016180.5(SLC45A2):c.1032+10G>T	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868930	NM_016180.5(SLC45A2):c.270G>A (p.Ser90=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867393	NM_016180.5(SLC45A2):c.889-18T>C	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866011	NM_016180.5(SLC45A2):c.240G>T (p.Leu80=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864554	NM_016180.5(SLC45A2):c.1275G>A (p.Leu425=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864285	NM_016180.5(SLC45A2):c.318C>T (p.Ile106=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861593	NM_016180.5(SLC45A2):c.540C>A (p.Leu180=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860345	NM_016180.5(SLC45A2):c.852A>C (p.Ala284=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859446	NM_016180.5(SLC45A2):c.439_443del (p.Ile147fs)	SLC45A2 (I147fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2857796	NM_016180.5(SLC45A2):c.1014C>T (p.Phe338=)	SLC45A2 (H230Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857379	NM_016180.5(SLC45A2):c.1389G>A (p.Gly463=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854637	NM_016180.5(SLC45A2):c.546C>A (p.Tyr182Ter)	SLC45A2 (Y182*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2854056	NM_016180.5(SLC45A2):c.186C>T (p.Ser62=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848403	NM_016180.5(SLC45A2):c.312C>G (p.Pro104=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845615	NM_016180.5(SLC45A2):c.552C>T (p.Ala184=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844552	NM_016180.5(SLC45A2):c.93C>A (p.Pro31=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843767	NM_016180.5(SLC45A2):c.1032+17T>C	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842112	NM_016180.5(SLC45A2):c.1389G>C (p.Gly463=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841981	NM_016180.5(SLC45A2):c.1418del (p.Gly473fs)	SLC45A2 (G473fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2839707	NM_016180.5(SLC45A2):c.1458T>A (p.Ala486=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839234	NM_016180.5(SLC45A2):c.307A>C (p.Arg103=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838909	NM_016180.5(SLC45A2):c.1435del (p.Leu479fs)	SLC45A2 (L479fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836748	NM_016180.5(SLC45A2):c.1156+10TC[2]	SLC45A2	Microsatellite (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2836214	NM_016180.5(SLC45A2):c.828T>C (p.Asn276=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835821	NM_016180.5(SLC45A2):c.1119C>T (p.Gly373=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835145	NM_016180.5(SLC45A2):c.1156+12T>A	SLC45A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2833176	NM_016180.5(SLC45A2):c.381A>G (p.Val127=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830051	NM_016180.5(SLC45A2):c.889-15C>G	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829864	NM_016180.5(SLC45A2):c.371del (p.Ala124fs)	SLC45A2 (A124fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2827568	NM_016180.5(SLC45A2):c.1320T>A (p.Thr440=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822798	NM_016180.5(SLC45A2):c.1407G>A (p.Val469=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822153	NM_016180.5(SLC45A2):c.563-9G>C	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820302	NM_016180.5(SLC45A2):c.798C>A (p.Tyr266Ter)	SLC45A2 (Y266*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2818757	NM_016180.5(SLC45A2):c.195G>T (p.Leu65=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817856	NM_016180.5(SLC45A2):c.74del (p.Val25fs)	SLC45A2 (V25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816103	NM_016180.5(SLC45A2):c.562+8A>T	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815745	NM_016180.5(SLC45A2):c.1464C>A (p.Ile488=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815093	NM_016180.5(SLC45A2):c.1017A>G (p.Thr339=)	SLC45A2 (R231G)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2815041	NM_016180.5(SLC45A2):c.258C>T (p.Pro86=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814403	NM_016180.5(SLC45A2):c.819A>G (p.Lys273=)	SLC45A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2809446	NM_016180.5(SLC45A2):c.996G>C (p.Leu332=)	SLC45A2 (V224L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805956	NM_016180.5(SLC45A2):c.1033-10T>C	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804773	NM_016180.5(SLC45A2):c.1157-18C>T	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802357	NM_016180.5(SLC45A2):c.1202_1203insACTACATTGGATTAAAGGGTCTTTA (p.Tyr401Ter)	SLC45A2 (Y401*)	Insertion (nonsense)	not provided	GPathogenic
Select item 2799842	NM_016180.5(SLC45A2):c.1572C>T (p.Leu524=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798725	NM_016180.5(SLC45A2):c.147C>T (p.Tyr49=)	SLC45A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796078	NM_016180.5(SLC45A2):c.888+12A>G	SLC45A2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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