ClinVar for Gene (Select 85301) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375245	NM_032888.4(COL27A1):c.4072G>A (p.Gly1358Arg)	COL27A1, LOC126860736 (G1358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3375149	NM_032888.4(COL27A1):c.4622G>C (p.Gly1541Ala)	COL27A1 (G1541A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366806	NM_032888.4(COL27A1):c.1991G>T (p.Gly664Val)	COL27A1 (G664V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366792	NM_032888.4(COL27A1):c.3259G>A (p.Gly1087Arg)	COL27A1 (G1087R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366533	NM_032888.4(COL27A1):c.3089G>T (p.Gly1030Val)	COL27A1 (G1030V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366337	NM_032888.4(COL27A1):c.2260G>A (p.Gly754Ser)	COL27A1 (G754S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366336	NM_032888.4(COL27A1):c.3737G>A (p.Gly1246Glu)	COL27A1 (G1246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358163	NM_032888.4(COL27A1):c.4811G>T (p.Gly1604Val)	COL27A1 (G1604V)	Single nucleotide variant (missense variant)	COL27A1-related disorder	GLikely pathogenic
Select item 3352661	NM_032888.4(COL27A1):c.2934+8G>T	COL27A1	Single nucleotide variant (intron variant)	COL27A1-related disorder	GLikely benign
Select item 3339742	NM_032888.4(COL27A1):c.2179G>C (p.Gly727Arg)	COL27A1 (G727R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339687	NM_032888.4(COL27A1):c.4262G>A (p.Gly1421Asp)	COL27A1 (G1421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339583	NM_032888.4(COL27A1):c.2261G>A (p.Gly754Asp)	COL27A1 (G754D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339442	NM_032888.4(COL27A1):c.2485G>A (p.Gly829Ser)	COL27A1 (G829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339424	NM_032888.4(COL27A1):c.3305G>C (p.Gly1102Ala)	COL27A1 (G1102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339110	NM_032888.4(COL27A1):c.4397G>A (p.Gly1466Asp)	COL27A1 (G1466D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336425	NM_032888.4(COL27A1):c.1901G>A (p.Gly634Asp)	COL27A1 (G634D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336346	NM_032888.4(COL27A1):c.2531G>A (p.Gly844Asp)	COL27A1 (G844D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336345	NM_032888.4(COL27A1):c.3656G>A (p.Gly1219Asp)	COL27A1 (G1219D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336344	NM_032888.4(COL27A1):c.4190G>A (p.Gly1397Glu)	COL27A1, LOC126860736 (G1397E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336281	NM_032888.4(COL27A1):c.4063G>A (p.Gly1355Arg)	COL27A1, LOC126860736 (G1355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336269	NM_032888.4(COL27A1):c.1936G>A (p.Gly646Arg)	COL27A1 (G646R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336234	NM_032888.4(COL27A1):c.3178G>A (p.Gly1060Arg)	COL27A1 (G1060R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335993	NM_032888.4(COL27A1):c.3349G>T (p.Gly1117Cys)	COL27A1 (G1117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268697	NM_032888.4(COL27A1):c.1588C>T (p.Pro530Ser)	COL27A1 (P530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268696	NM_032888.4(COL27A1):c.474C>A (p.His158Gln)	COL27A1 (H158Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268695	NM_032888.4(COL27A1):c.1012C>G (p.Pro338Ala)	COL27A1 (P338A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268694	NM_032888.4(COL27A1):c.2045C>G (p.Pro682Arg)	COL27A1 (P682R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268692	NM_032888.4(COL27A1):c.630A>C (p.Glu210Asp)	COL27A1 (E210D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268691	NM_032888.4(COL27A1):c.3824C>T (p.Pro1275Leu)	COL27A1 (P1275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268690	NM_032888.4(COL27A1):c.4517A>G (p.Lys1506Arg)	COL27A1 (K1506R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268689	NM_032888.4(COL27A1):c.1210C>G (p.Gln404Glu)	COL27A1 (Q404E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268688	NM_032888.4(COL27A1):c.5347A>C (p.Lys1783Gln)	COL27A1 (K1783Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268687	NM_032888.4(COL27A1):c.3830C>T (p.Pro1277Leu)	COL27A1 (P1277L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268686	NM_032888.4(COL27A1):c.1327C>A (p.Leu443Ile)	COL27A1 (L443I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268684	NM_032888.4(COL27A1):c.1256C>T (p.Ser419Phe)	COL27A1 (S419F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268683	NM_032888.4(COL27A1):c.5366G>A (p.Arg1789Gln)	COL27A1 (R1789Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268682	NM_032888.4(COL27A1):c.2435T>G (p.Leu812Arg)	COL27A1 (L812R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268681	NM_032888.4(COL27A1):c.1772T>C (p.Val591Ala)	COL27A1 (V591A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3268680	NM_032888.4(COL27A1):c.3695C>A (p.Pro1232His)	COL27A1 (P1232H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251918	NM_032888.4(COL27A1):c.2242G>A (p.Gly748Arg)	COL27A1 (G748R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251917	NM_032888.4(COL27A1):c.4127G>A (p.Gly1376Glu)	COL27A1, LOC126860736 (G1376E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251813	NM_032888.4(COL27A1):c.2378G>T (p.Gly793Val)	COL27A1 (G793V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251812	NM_032888.4(COL27A1):c.3170G>T (p.Gly1057Val)	COL27A1 (G1057V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251625	NC_000009.11:g.(117046043_117047003)_(117074792_?)dup	COL27A1	Duplication	not specified	GLikely benign
Select item 3251380	NM_032888.4(COL27A1):c.4666G>A (p.Gly1556Ser)	COL27A1 (G1556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251379	NM_032888.4(COL27A1):c.4333G>T (p.Gly1445Trp)	COL27A1 (G1445W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251291	NM_032888.4(COL27A1):c.3053G>A (p.Gly1018Glu)	COL27A1 (G1018E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245370	NC_000009.11:g.(?_116925291)_(116930953_?)del	COL27A1	Deletion	not provided	GLikely pathogenic
Select item 3234470	NM_032888.4(COL27A1):c.3965C>A (p.Pro1322His)	COL27A1 (P1322H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233914	NM_032888.4(COL27A1):c.3620G>A (p.Gly1207Glu)	COL27A1 (G1207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233893	NM_032888.4(COL27A1):c.1946G>A (p.Gly649Asp)	COL27A1 (G649D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233479	NM_032888.4(COL27A1):c.1895del (p.Asp632fs)	COL27A1 (D632fs)	Deletion (frameshift variant)	Steel syndrome	GPathogenic
Select item 3233471	NM_032888.4(COL27A1):c.2063G>C (p.Gly688Ala)	COL27A1 (G688A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220911	NM_032888.4(COL27A1):c.4261-1G>A	COL27A1	Single nucleotide variant (splice acceptor variant)	Steel syndrome	GPathogenic
Select item 3147543	NM_032888.4(COL27A1):c.794C>A (p.Ala265Asp)	COL27A1 (A265D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147542	NM_032888.4(COL27A1):c.713A>G (p.Gln238Arg)	COL27A1 (Q238R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147541	NM_032888.4(COL27A1):c.5450G>A (p.Arg1817His)	COL27A1 (R1817H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147539	NM_032888.4(COL27A1):c.5416G>A (p.Val1806Met)	COL27A1 (V1806M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147538	NM_032888.4(COL27A1):c.5248A>T (p.Asn1750Tyr)	COL27A1 (N1750Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147537	NM_032888.4(COL27A1):c.5153T>C (p.Ile1718Thr)	COL27A1 (I1718T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147536	NM_032888.4(COL27A1):c.5024G>A (p.Ser1675Asn)	COL27A1 (S1675N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147535	NM_032888.4(COL27A1):c.4805C>T (p.Pro1602Leu)	COL27A1 (P1602L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147533	NM_032888.4(COL27A1):c.427C>T (p.Arg143Cys)	COL27A1 (R143C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147532	NM_032888.4(COL27A1):c.4199G>A (p.Gly1400Asp)	COL27A1, LOC126860736 (G1400D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147531	NM_032888.4(COL27A1):c.4105G>A (p.Glu1369Lys)	COL27A1, LOC126860736 (E1369K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147530	NM_032888.4(COL27A1):c.4042C>T (p.Arg1348Trp)	COL27A1, LOC126860736 (R1348W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147529	NM_032888.4(COL27A1):c.4004A>G (p.Asp1335Gly)	COL27A1, LOC126860736 (D1335G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147528	NM_032888.4(COL27A1):c.3859C>T (p.Arg1287Trp)	COL27A1 (R1287W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147527	NM_032888.4(COL27A1):c.3689C>A (p.Pro1230His)	COL27A1 (P1230H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147526	NM_032888.4(COL27A1):c.3364C>T (p.Pro1122Ser)	COL27A1 (P1122S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147525	NM_032888.4(COL27A1):c.3326C>T (p.Ser1109Leu)	COL27A1 (S1109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147524	NM_032888.4(COL27A1):c.3284C>G (p.Pro1095Arg)	COL27A1 (P1095R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147523	NM_032888.4(COL27A1):c.2981G>T (p.Gly994Val)	COL27A1 (G994V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147522	NM_032888.4(COL27A1):c.2957G>A (p.Arg986Gln)	COL27A1 (R986Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147521	NM_032888.4(COL27A1):c.2375C>T (p.Pro792Leu)	COL27A1 (P792L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147520	NM_032888.4(COL27A1):c.2275A>G (p.Ile759Val)	COL27A1 (I759V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147519	NM_032888.4(COL27A1):c.2077A>G (p.Met693Val)	COL27A1 (M693V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147518	NM_032888.4(COL27A1):c.1876C>A (p.Pro626Thr)	COL27A1 (P626T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147517	NM_032888.4(COL27A1):c.1556C>T (p.Thr519Ile)	COL27A1 (T519I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147516	NM_032888.4(COL27A1):c.151C>T (p.Arg51Trp)	COL27A1 (R51W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147515	NM_032888.4(COL27A1):c.1295T>A (p.Met432Lys)	COL27A1 (M432K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147514	NM_032888.4(COL27A1):c.1165C>A (p.Gln389Lys)	COL27A1 (Q389K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147513	NM_032888.4(COL27A1):c.1138G>A (p.Val380Met)	COL27A1 (V380M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147511	NM_032888.4(COL27A1):c.1102C>G (p.Leu368Val)	COL27A1 (L368V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063112	GRCh37/hg19 9q32(chr9:117037819-117102046)x1	AKNA, COL27A1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3053403	NM_032888.4(COL27A1):c.966G>T (p.Leu322=)	COL27A1	Single nucleotide variant (synonymous variant)	COL27A1-related disorder	GLikely benign
Select item 3024043	NM_032888.4(COL27A1):c.3933+23del	COL27A1	Deletion (intron variant)	not provided	GBenign
Select item 3023571	NM_032888.4(COL27A1):c.4099-15C>T	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023121	NM_032888.4(COL27A1):c.4260+14G>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023066	NM_032888.4(COL27A1):c.1653C>A (p.Pro551=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022914	NM_032888.4(COL27A1):c.2223+11T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022806	NM_032888.4(COL27A1):c.3717+16C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022791	NM_032888.4(COL27A1):c.3033+17G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022570	NM_032888.4(COL27A1):c.4152+20C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022400	NM_032888.4(COL27A1):c.2467-19del	COL27A1	Deletion (intron variant)	not provided	GLikely benign
Select item 3021878	NM_032888.4(COL27A1):c.3087+19T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021017	NM_032888.4(COL27A1):c.2368-12C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019915	NM_032888.4(COL27A1):c.2566-12G>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019441	NM_032888.4(COL27A1):c.4261-6C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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