51025[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 1684659	NC_000016.10:g.3619617_4448281del	ADCY9, CORO7 +40 more	Deletion	See cases	GPathogenic
Select item 57281	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3	ADCY9, C16orf96 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	ADCY9, C16orf96 +51 more	Copy number gain	See cases	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	ADCY9, LOC130058369 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 148700	GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1	ADCY9, C16orf96 +49 more	Copy number loss	See cases	GPathogenic
Select item 1277793	NC_000016.10:g.4340031G>C	PAM16	Single nucleotide variant	not provided	GBenign
Select item 3023967	NM_016069.11(PAM16):c.375G>A (p.Thr125=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494233	NM_016069.11(PAM16):c.374C>T (p.Thr125Met)	CORO7-PAM16, PAM16 (T125M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1505935	NM_016069.11(PAM16):c.355A>G (p.Lys119Glu)	PAM16, CORO7-PAM16 (K1042E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749815	NM_016069.11(PAM16):c.345G>A (p.Glu115=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1423997	NM_016069.11(PAM16):c.340C>G (p.Gln114Glu)	CORO7-PAM16, PAM16 (Q114E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279559	NM_016069.11(PAM16):c.340C>A (p.Gln114Lys)	CORO7-PAM16, PAM16 (Q1037K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1572049	NM_016069.11(PAM16):c.312C>T (p.Arg104=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360742	NM_016069.11(PAM16):c.310C>T (p.Arg104Cys)	PAM16, CORO7-PAM16 (R104C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517664	NM_016069.11(PAM16):c.307G>A (p.Glu103Lys)	CORO7-PAM16, PAM16 (E1026K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742600	NM_016069.11(PAM16):c.300C>T (p.Arg100=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494383	NM_016069.11(PAM16):c.299G>A (p.Arg100His)	CORO7-PAM16, PAM16 (R100H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1637693	NM_016069.11(PAM16):c.292-9A>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1452377	NM_016069.11(PAM16):c.292-10G>A	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990304	NM_016069.11(PAM16):c.292-12G>A	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1910390	NM_016069.11(PAM16):c.292-13C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632985	NM_016069.11(PAM16):c.292-16A>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638931	NM_016069.11(PAM16):c.292-20G>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293803	NM_016069.11(PAM16):c.292-241=	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244473	NM_016069.11(PAM16):c.291+48T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783731	NM_016069.11(PAM16):c.291+10C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789224	NM_016069.11(PAM16):c.291+7G>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	PAM16-related disorder +1 more	GBenign
Select item 1513278	NM_016069.11(PAM16):c.268G>A (p.Gly90Ser)	CORO7-PAM16, PAM16 (G1013S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405051	NM_016069.11(PAM16):c.263T>C (p.Val88Ala)	CORO7-PAM16, PAM16 (V1011A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076423	NM_016069.11(PAM16):c.253G>C (p.Asp85His)	CORO7-PAM16, PAM16 (D85H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1442321	NM_016069.11(PAM16):c.242T>G (p.Phe81Cys)	CORO7-PAM16, PAM16 (F1004C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3076422	NM_016069.11(PAM16):c.232G>A (p.Glu78Lys)	CORO7-PAM16, PAM16 (E78K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076421	NM_016069.11(PAM16):c.230A>G (p.Tyr77Cys)	CORO7-PAM16, PAM16 (Y77C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 187811	NM_016069.11(PAM16):c.226A>G (p.Asn76Asp)	CORO7-PAM16, PAM16 (N76D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spondylometaphyseal dysplasia, Megarbane type	GPathogenic
Select item 1544196	NM_016069.11(PAM16):c.226-3C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1975112	NM_016069.11(PAM16):c.226-5T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2149601	NM_016069.11(PAM16):c.226-10_226-9del	CORO7-PAM16, PAM16	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1975505	NM_016069.11(PAM16):c.226-9C>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1906731	NM_016069.11(PAM16):c.226-9C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984760	NM_016069.11(PAM16):c.226-16C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648377	NM_016069.11(PAM16):c.226-18G>A	PAM16, CORO7-PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803607	NM_016069.11(PAM16):c.226-20C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274656	NM_016069.11(PAM16):c.226-54A>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259596	NM_016069.11(PAM16):c.225+88T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2789386	NM_016069.11(PAM16):c.225+18C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601470	NM_016069.11(PAM16):c.225+15C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969826	NM_016069.11(PAM16):c.225+9A>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802679	NM_016069.11(PAM16):c.225+7C>A	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 636277	NM_016069.11(PAM16):c.221A>C (p.Gln74Pro)	CORO7-PAM16, PAM16 (Q74P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spondylometaphyseal dysplasia, Megarbane type	GPathogenic
Select item 2414829	NM_016069.11(PAM16):c.192C>T (p.Asn64=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585719	NM_016069.11(PAM16):c.159C>T (p.Gly53=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673917	NM_016069.11(PAM16):c.141C>T (p.Ala47=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417088	NM_016069.11(PAM16):c.132G>C (p.Arg44=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1242286	NM_016069.11(PAM16):c.131G>A (p.Arg44Gln)	CORO7-PAM16, PAM16 (R44Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1395173	NM_016069.11(PAM16):c.130C>T (p.Arg44Trp)	CORO7-PAM16, PAM16 (R967W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3076420	NM_016069.11(PAM16):c.121G>A (p.Ala41Thr)	CORO7-PAM16, PAM16 (A964T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1519043	NM_016069.11(PAM16):c.118C>T (p.Arg40Cys)	CORO7-PAM16, PAM16 (R963C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1438601	NM_016069.11(PAM16):c.113G>A (p.Arg38Gln)	CORO7-PAM16, PAM16 (R961Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585054	NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)	CORO7-PAM16, PAM16 (R38G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1509260	NM_016069.11(PAM16):c.94C>T (p.Arg32Trp)	PAM16, CORO7-PAM16 (R32W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1272598	NM_016069.11(PAM16):c.89-62G>A	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243918	NM_016069.11(PAM16):c.89-228A>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232778	NM_016069.11(PAM16):c.89-304A>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1664045	NM_016069.11(PAM16):c.88+15G>A	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936779	NM_016069.11(PAM16):c.88+14C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599032	NM_016069.11(PAM16):c.88+12T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2895071	NM_016069.11(PAM16):c.88+8T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3076419	NM_016069.11(PAM16):c.74G>A (p.Arg25Gln)	CORO7-PAM16, PAM16 (R25Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076418	NM_016069.11(PAM16):c.64C>T (p.Arg22Trp)	CORO7-PAM16, PAM16 (R22W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1525778	NM_016069.11(PAM16):c.51C>T (p.Gly17=)	PAM16, CORO7-PAM16	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2047323	NM_016069.11(PAM16):c.47T>C (p.Val16Ala)	CORO7-PAM16, PAM16 (V16A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1511102	NM_016069.11(PAM16):c.31A>G (p.Met11Val)	CORO7-PAM16, PAM16 (M934V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550471	NM_016069.11(PAM16):c.27T>C (p.Ile9=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755499	NM_016069.11(PAM16):c.24C>T (p.Ile8=)	CORO7-PAM16, PAM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513751	NM_016069.11(PAM16):c.13C>G (p.Leu5Val)	CORO7-PAM16, PAM16 (L5V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235533	NM_016069.11(PAM16):c.4-84T>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241789	NM_016069.11(PAM16):c.3+175C>G	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1613800	NM_016069.11(PAM16):c.3+20C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601429	NM_016069.11(PAM16):c.3+14C>T	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2109454	NM_016069.11(PAM16):c.3+3G>A	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1241899	NM_001201479.2(CORO7-PAM16):c.2772+3799T>C	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269000	NM_001201479.2(CORO7-PAM16):c.2772+3730C>A	CORO7-PAM16, PAM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	UBALD1, VASN +52 more	Copy number loss	not provided	GPathogenic
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1412016	NC_000016.9:g.(?_4390320)_(4391525_?)del	CORO7-PAM16, PAM16	Deletion	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 831384	NC_000016.10:g.(?_3727698)_(4802591_?)dup	ADCY9, ANKS3 +21 more	Duplication	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 688119	GRCh37/hg19 16p13.3(chr16:4382314-4511029)x1	CORO7, CORO7-PAM16 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2