TRPM1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 888455	NM_001252024.2(TRPM1):c.*723T>C	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GBenign
Select item 888456	NM_001252024.2(TRPM1):c.*664A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 888457	NM_001252024.2(TRPM1):c.*651C>T	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315480	NM_001252024.2(TRPM1):c.*571G>A	TRPM1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 888458	NM_001252024.2(TRPM1):c.*549T>C	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GBenign
Select item 315481	NM_001252024.2(TRPM1):c.*540dup	TRPM1	Duplication (3 prime UTR variant)	Congenital Stationary Night Blindness, Recessive	GUncertain significance
Select item 315482	NM_001252024.2(TRPM1):c.*482A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315483	NM_001252024.2(TRPM1):c.*447G>C	TRPM1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 884230	NM_001252024.2(TRPM1):c.*350C>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315484	NM_001252024.2(TRPM1):c.*251A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 884231	NM_001252024.2(TRPM1):c.*250T>C	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884232	NM_001252024.2(TRPM1):c.*240G>T	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884233	NM_001252024.2(TRPM1):c.*229G>A	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884234	NM_001252024.2(TRPM1):c.*228C>T	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884235	NM_001252024.2(TRPM1):c.*206A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GLikely benign
Select item 886262	NM_001252024.2(TRPM1):c.*65A>G	TRPM1	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 315485	NM_001252024.2(TRPM1):c.*29dup	TRPM1	Duplication (3 prime UTR variant)	Congenital Stationary Night Blindness, Recessive	GUncertain significance
Select item 1485120	NM_001252024.2(TRPM1):c.4877A>G (p.Ter1626Trp)	TRPM1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1567702	NM_001252024.2(TRPM1):c.4869T>G (p.Thr1623=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979031	NM_001252024.2(TRPM1):c.4857T>A (p.Ala1619=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1184564	NM_001252024.2(TRPM1):c.4842del (p.Lys1615fs)	TRPM1 (K1593fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C	GLikely pathogenic
Select item 1062194	NM_001252024.2(TRPM1):c.4838dup (p.Val1614fs)	TRPM1 (V1592fs +2 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 315486	NM_001252024.2(TRPM1):c.4838A>T (p.Lys1613Met)	TRPM1 (K1591M +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 1360563	NM_001252024.2(TRPM1):c.4832A>T (p.Glu1611Val)	TRPM1 (E1589V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886263	NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2005464	NM_001252024.2(TRPM1):c.4808T>C (p.Ile1603Thr)	TRPM1 (I1581T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509524	NM_001252024.2(TRPM1):c.4804G>C (p.Val1602Leu)	TRPM1 (V1580L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931853	NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs)	TRPM1 (S1617fs +2 more)	Duplication (frameshift variant)	Congenital stationary night blindness 1C	GPathogenic
Select item 1387233	NM_001252024.2(TRPM1):c.4787G>A (p.Ser1596Asn)	TRPM1 (S1574N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164107	NM_001252024.2(TRPM1):c.4782T>C (p.His1594=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915693	NM_001252024.2(TRPM1):c.4781A>T (p.His1594Leu)	TRPM1 (H1594L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 315487	NM_001252024.2(TRPM1):c.4781A>G (p.His1594Arg)	TRPM1 (H1572R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GUncertain significance
Select item 2117902	NM_001252024.2(TRPM1):c.4774T>C (p.Ser1592Pro)	TRPM1 (S1570P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009308	NM_001252024.2(TRPM1):c.4770_4773del (p.Arg1591fs)	TRPM1 (R1569fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2023702	NM_001252024.2(TRPM1):c.4763del (p.Lys1588fs)	TRPM1 (K1566fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 1716200	NM_001252024.2(TRPM1):c.4756C>A (p.Gln1586Lys)	TRPM1 (Q1564K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886264	NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2031320	NM_001252024.2(TRPM1):c.4752C>T (p.Ser1584=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 315488	NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met)	TRPM1 (V1560M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1648934	NM_001252024.2(TRPM1):c.4740del (p.Asn1581fs)	TRPM1 (N1559fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2259654	NM_001252024.2(TRPM1):c.4735C>T (p.Pro1579Ser)	TRPM1 (P1596S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2024779	NM_001252024.2(TRPM1):c.4720del (p.Ser1574fs)	TRPM1 (S1552fs +2 more)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 1118212	NM_001252024.2(TRPM1):c.4710C>T (p.Leu1570=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517767	NM_001252024.2(TRPM1):c.4701C>G (p.Phe1567Leu)	TRPM1 (F1545L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886265	NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser)	TRPM1 (L1543S +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 281805	NM_001252024.2(TRPM1):c.4681C>T (p.Pro1561Ser)	TRPM1 (P1539S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818272	NM_001252024.2(TRPM1):c.4680G>A (p.Lys1560=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511968	NM_001252024.2(TRPM1):c.4679_4680insTTTGAA (p.Val1559_Lys1560insAsnLeu)	TRPM1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1170645	NM_001252024.2(TRPM1):c.4671G>A (p.Leu1557=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1938329	NM_001252024.2(TRPM1):c.4665C>G (p.Asn1555Lys)	TRPM1 (N1555K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1638121	NM_001252024.2(TRPM1):c.4665C>T (p.Asn1555=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902517	NM_001252024.2(TRPM1):c.4647C>G (p.Asp1549Glu)	TRPM1 (D1549E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483548	NM_001252024.2(TRPM1):c.4646A>G (p.Asp1549Gly)	TRPM1 (D1549G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 315489	NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His)	TRPM1 (D1527H +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GUncertain significance
Select item 1009123	NM_001252024.2(TRPM1):c.4625G>A (p.Arg1542His)	TRPM1 (R1520H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 958866	NM_001252024.2(TRPM1):c.4625G>C (p.Arg1542Pro)	TRPM1 (R1520P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471127	NM_001252024.2(TRPM1):c.4624C>T (p.Arg1542Cys)	TRPM1 (R1559C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1651502	NM_001252024.2(TRPM1):c.4615C>T (p.Arg1539Ter)	TRPM1 (R1517* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1056283	NM_001252024.2(TRPM1):c.4600G>A (p.Ala1534Thr)	TRPM1 (A1512T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1951854	NM_001252024.2(TRPM1):c.4599C>T (p.Val1533=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 964113	NM_001252024.2(TRPM1):c.4598T>G (p.Val1533Gly)	TRPM1 (V1511G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1025027	NM_001252024.2(TRPM1):c.4591C>T (p.His1531Tyr)	TRPM1 (H1509Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 857244	NM_001252024.2(TRPM1):c.4591C>A (p.His1531Asn)	TRPM1 (H1531N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967331	NM_001252024.2(TRPM1):c.4581G>A (p.Met1527Ile)	TRPM1 (M1544I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721145	NM_001252024.2(TRPM1):c.4580T>G (p.Met1527Arg)	TRPM1 (M1505R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041263	NM_001252024.2(TRPM1):c.4576G>A (p.Asp1526Asn)	TRPM1 (D1526N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537041	NM_001252024.2(TRPM1):c.4575A>T (p.Ala1525=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757902	NM_001252024.2(TRPM1):c.4560T>C (p.His1520=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 315490	NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln)	TRPM1 (H1498Q +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 1415891	NM_001252024.2(TRPM1):c.4553C>T (p.Ala1518Val)	TRPM1 (A1496V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001042	NM_001252024.2(TRPM1):c.4547T>A (p.Val1516Glu)	TRPM1 (V1516E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008289	NM_001252024.2(TRPM1):c.4547T>C (p.Val1516Ala)	TRPM1 (V1494A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471744	NM_001252024.2(TRPM1):c.4536G>A (p.Ser1512=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1092895	NM_001252024.2(TRPM1):c.4527C>T (p.Tyr1509=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931325	NM_001252024.2(TRPM1):c.4526del (p.Tyr1509fs)	TRPM1 (Y1509fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1054505	NM_001252024.2(TRPM1):c.4523C>T (p.Pro1508Leu)	TRPM1 (P1486L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919813	NM_001252024.2(TRPM1):c.4522C>G (p.Pro1508Ala)	TRPM1 (P1486A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 949812	NM_001252024.2(TRPM1):c.4509T>C (p.His1503=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 969795	NM_001252024.2(TRPM1):c.4505C>T (p.Ser1502Phe)	TRPM1 (S1480F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 887261	NM_001252024.2(TRPM1):c.4502G>A (p.Arg1501His)	TRPM1 (R1501H +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GBenign/Likely benign
Select item 887262	NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys)	TRPM1 (R1501C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1903360	NM_001252024.2(TRPM1):c.4500G>A (p.Thr1500=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196018	NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met)	TRPM1 (T1478M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2056938	NM_001252024.2(TRPM1):c.4493A>C (p.Lys1498Thr)	TRPM1 (K1476T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111327	NM_001252024.2(TRPM1):c.4485A>T (p.Gln1495His)	TRPM1 (Q1495H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051226	NM_001252024.2(TRPM1):c.4478A>G (p.Gln1493Arg)	TRPM1 (Q1471R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 857257	NM_001252024.2(TRPM1):c.4475G>A (p.Trp1492Ter)	TRPM1 (W1470* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1369029	NM_001252024.2(TRPM1):c.4474T>C (p.Trp1492Arg)	TRPM1 (W1470R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028820	NM_001252024.2(TRPM1):c.4473A>G (p.Glu1491=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481938	NM_001252024.2(TRPM1):c.4471G>C (p.Glu1491Gln)	TRPM1 (E1491Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1666509	NM_001252024.2(TRPM1):c.4470G>A (p.Thr1490=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496774	NM_001252024.2(TRPM1):c.4469C>T (p.Thr1490Met)	TRPM1 (T1490M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963376	NM_001252024.2(TRPM1):c.4466C>T (p.Thr1489Met)	TRPM1 (T1467M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509966	NM_001252024.2(TRPM1):c.4465A>T (p.Thr1489Ser)	TRPM1 (T1467S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1080915	NM_001252024.2(TRPM1):c.4452G>C (p.Thr1484=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 315491	NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=)	TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign
Select item 953304	NM_001252024.2(TRPM1):c.4451C>T (p.Thr1484Met)	TRPM1 (T1462M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1907594	NM_001252024.2(TRPM1):c.4446A>G (p.Ser1482=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059193	NM_001252024.2(TRPM1):c.4444T>C (p.Ser1482Pro)	TRPM1 (S1460P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870702	NM_001252024.2(TRPM1):c.4443T>C (p.Ser1481=)	TRPM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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