ClinVar for Gene (Select 85301) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ABCA1, ABCA2 +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 condition	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
Select item 3019298	NM_032888.4(COL27A1):c.4153-12C>G	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019240	NM_032888.4(COL27A1):c.3244C>T (p.Leu1082=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018295	NM_032888.4(COL27A1):c.2268+17C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017075	NM_032888.4(COL27A1):c.2979+13C>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016492	NM_032888.4(COL27A1):c.4044+23_4044+31del	COL27A1, LOC126860736	Deletion (intron variant)	not provided	GLikely benign
Select item 3016369	NM_032888.4(COL27A1):c.3034-9C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014080	NM_032888.4(COL27A1):c.3987+11G>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013373	NM_032888.4(COL27A1):c.2169+18A>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012923	NM_032888.4(COL27A1):c.1314C>T (p.Pro438=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012484	NM_032888.4(COL27A1):c.3394-18TGTC[2]	COL27A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3012351	NM_032888.4(COL27A1):c.2412T>C (p.Asp804=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012095	NM_032888.4(COL27A1):c.5218-12G>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011850	NM_032888.4(COL27A1):c.2224-16G>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011551	NM_032888.4(COL27A1):c.4938+13G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011093	NM_032888.4(COL27A1):c.2323-19C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010630	NM_032888.4(COL27A1):c.3034-13G>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010396	NM_032888.4(COL27A1):c.1962+14C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010340	NM_032888.4(COL27A1):c.1929G>A (p.Gly643=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010086	NM_032888.4(COL27A1):c.1702T>C (p.Leu568=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009991	NM_032888.4(COL27A1):c.1963-15C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009816	NM_032888.4(COL27A1):c.3339+16T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009228	NM_032888.4(COL27A1):c.2367+20A>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008926	NM_032888.4(COL27A1):c.1908+16G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008821	NM_032888.4(COL27A1):c.612G>T (p.Pro204=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008564	NM_032888.4(COL27A1):c.3610-20C>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008481	NM_032888.4(COL27A1):c.3078G>A (p.Lys1026=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007619	NM_032888.4(COL27A1):c.1104C>G (p.Leu368=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007586	NM_032888.4(COL27A1):c.2835+14G>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007298	NM_032888.4(COL27A1):c.2299C>T (p.Leu767=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006145	NM_032888.4(COL27A1):c.4639-15C>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005767	NM_032888.4(COL27A1):c.4810-15C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004873	NM_032888.4(COL27A1):c.2422-17TC[3]	COL27A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3002528	NM_032888.4(COL27A1):c.996A>C (p.Ala332=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001244	NM_032888.4(COL27A1):c.4939-16C>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999749	NM_032888.4(COL27A1):c.4873-11T>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998429	NM_032888.4(COL27A1):c.4215G>A (p.Lys1405=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997576	NM_032888.4(COL27A1):c.4791+14C>G	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996595	NM_032888.4(COL27A1):c.3717+20G>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996110	NM_032888.4(COL27A1):c.4261-8C>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995973	NM_032888.4(COL27A1):c.3340-8C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995596	NM_032888.4(COL27A1):c.4639-13C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995260	NM_032888.4(COL27A1):c.4756-17G>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995136	NM_032888.4(COL27A1):c.3249+16A>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994866	NM_032888.4(COL27A1):c.3198C>T (p.Gly1066=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994108	NM_032888.4(COL27A1):c.2520+13T>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993713	NM_032888.4(COL27A1):c.5427T>C (p.Asp1809=)	COL27A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993415	NM_032888.4(COL27A1):c.133+9C>T	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992929	NM_032888.4(COL27A1):c.4255del (p.Val1419fs)	COL27A1 (V1419fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2991831	NM_032888.4(COL27A1):c.2520+10G>A	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991807	NM_032888.4(COL27A1):c.4152+15G>A	COL27A1, LOC126860736	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989849	NM_032888.4(COL27A1):c.2169+22del	COL27A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2988970	NC_000009.12:g.114205103del	COL27A1	Deletion	not provided	GPathogenic
Select item 2988559	NM_032888.4(COL27A1):c.4368+15G>C	COL27A1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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