ClinVar for Gene (Select 50509) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268791	NM_015719.4(COL5A3):c.4360G>T (p.Gly1454Cys)	COL5A3 (G1454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268790	NM_015719.4(COL5A3):c.28C>T (p.Pro10Ser)	COL5A3 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268789	NM_015719.4(COL5A3):c.5063C>A (p.Thr1688Asn)	COL5A3 (T1688N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268788	NM_015719.4(COL5A3):c.4285C>A (p.Gln1429Lys)	COL5A3 (Q1429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268787	NM_015719.4(COL5A3):c.2390G>A (p.Gly797Glu)	COL5A3 (G797E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268786	NM_015719.4(COL5A3):c.772G>T (p.Gly258Cys)	COL5A3 (G258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268784	NM_015719.4(COL5A3):c.4201G>A (p.Glu1401Lys)	COL5A3 (E1401K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268783	NM_015719.4(COL5A3):c.5089C>G (p.Arg1697Gly)	COL5A3 (R1697G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268782	NM_015719.4(COL5A3):c.4756C>T (p.Leu1586Phe)	COL5A3 (L1586F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268781	NM_015719.4(COL5A3):c.2959G>A (p.Asp987Asn)	COL5A3 (D987N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268780	NM_015719.4(COL5A3):c.3664C>A (p.Pro1222Thr)	COL5A3 (P1222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268779	NM_015719.4(COL5A3):c.4340T>C (p.Leu1447Pro)	COL5A3 (L1447P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268778	NM_015719.4(COL5A3):c.2531C>T (p.Pro844Leu)	COL5A3 (P844L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268777	NM_015719.4(COL5A3):c.4742G>C (p.Gly1581Ala)	COL5A3 (G1581A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268776	NM_015719.4(COL5A3):c.3530G>A (p.Arg1177Gln)	COL5A3 (R1177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268774	NM_015719.4(COL5A3):c.1354G>A (p.Gly452Ser)	COL5A3 (G452S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268773	NM_015719.4(COL5A3):c.2267C>T (p.Pro756Leu)	COL5A3 (P756L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268772	NM_015719.4(COL5A3):c.5138G>A (p.Arg1713Gln)	COL5A3 (R1713Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268771	NM_015719.4(COL5A3):c.847C>G (p.Gln283Glu)	COL5A3 (Q283E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268770	NM_015719.4(COL5A3):c.919G>A (p.Val307Ile)	COL5A3 (V307I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268769	NM_015719.4(COL5A3):c.1576G>A (p.Val526Met)	COL5A3 (V526M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147676	NM_015719.4(COL5A3):c.934A>C (p.Thr312Pro)	COL5A3 (T312P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147675	NM_015719.4(COL5A3):c.76G>A (p.Gly26Arg)	COL5A3 (G26R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147674	NM_015719.4(COL5A3):c.737G>A (p.Arg246Gln)	COL5A3 (R246Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147673	NM_015719.4(COL5A3):c.725C>T (p.Pro242Leu)	COL5A3 (P242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147672	NM_015719.4(COL5A3):c.515T>C (p.Leu172Ser)	COL5A3 (L172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147670	NM_015719.4(COL5A3):c.5009G>A (p.Arg1670His)	COL5A3 (R1670H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147669	NM_015719.4(COL5A3):c.499G>C (p.Ala167Pro)	COL5A3 (A167P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147668	NM_015719.4(COL5A3):c.4870G>A (p.Asp1624Asn)	COL5A3 (D1624N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147667	NM_015719.4(COL5A3):c.466G>A (p.Gly156Ser)	COL5A3 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147666	NM_015719.4(COL5A3):c.442C>T (p.His148Tyr)	COL5A3 (H148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147664	NM_015719.4(COL5A3):c.4313C>T (p.Pro1438Leu)	COL5A3 (P1438L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147663	NM_015719.4(COL5A3):c.4291C>T (p.Pro1431Ser)	COL5A3 (P1431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147662	NM_015719.4(COL5A3):c.4057C>T (p.Arg1353Cys)	COL5A3 (R1353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147661	NM_015719.4(COL5A3):c.3793G>A (p.Gly1265Arg)	COL5A3 (G1265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147660	NM_015719.4(COL5A3):c.3503T>C (p.Met1168Thr)	COL5A3 (M1168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147659	NM_015719.4(COL5A3):c.341G>A (p.Gly114Asp)	COL5A3 (G114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147657	NM_015719.4(COL5A3):c.3298G>A (p.Gly1100Arg)	COL5A3 (G1100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147656	NM_015719.4(COL5A3):c.3286G>A (p.Ala1096Thr)	COL5A3 (A1096T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147655	NM_015719.4(COL5A3):c.3231C>G (p.Asp1077Glu)	COL5A3 (D1077E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147654	NM_015719.4(COL5A3):c.3162T>G (p.Asp1054Glu)	COL5A3 (D1054E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147652	NM_015719.4(COL5A3):c.2930G>A (p.Gly977Asp)	COL5A3 (G977D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147651	NM_015719.4(COL5A3):c.2744C>T (p.Pro915Leu)	COL5A3 (P915L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147650	NM_015719.4(COL5A3):c.2686G>A (p.Gly896Arg)	COL5A3 (G896R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147649	NM_015719.4(COL5A3):c.2651G>C (p.Gly884Ala)	COL5A3 (G884A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147648	NM_015719.4(COL5A3):c.2434G>C (p.Gly812Arg)	COL5A3 (G812R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147647	NM_015719.4(COL5A3):c.2304G>T (p.Gln768His)	COL5A3 (Q768H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147646	NM_015719.4(COL5A3):c.2018C>T (p.Pro673Leu)	COL5A3 (P673L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147645	NM_015719.4(COL5A3):c.1873C>T (p.Pro625Ser)	COL5A3 (P625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147644	NM_015719.4(COL5A3):c.1850G>T (p.Gly617Val)	COL5A3 (G617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147643	NM_015719.4(COL5A3):c.1783G>A (p.Ala595Thr)	COL5A3 (A595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147642	NM_015719.4(COL5A3):c.157T>C (p.Phe53Leu)	COL5A3 (F53L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147641	NM_015719.4(COL5A3):c.1466G>A (p.Arg489His)	COL5A3 (R489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147640	NM_015719.4(COL5A3):c.1465C>T (p.Arg489Cys)	COL5A3 (R489C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147639	NM_015719.4(COL5A3):c.1262C>T (p.Pro421Leu)	COL5A3 (P421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147638	NM_015719.4(COL5A3):c.1256G>T (p.Gly419Val)	COL5A3 (G419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147637	NM_015719.4(COL5A3):c.1249G>A (p.Asp417Asn)	COL5A3 (D417N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147636	NM_015719.4(COL5A3):c.1037G>A (p.Gly346Glu)	COL5A3 (G346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649278	NM_015719.4(COL5A3):c.1473C>T (p.Gly491=)	COL5A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649277	NM_015719.4(COL5A3):c.4719G>A (p.Arg1573=)	COL5A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622907	NM_015719.4(COL5A3):c.938C>T (p.Thr313Ile)	COL5A3 (T313I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604010	NM_015719.4(COL5A3):c.4633C>T (p.His1545Tyr)	COL5A3 (H1545Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602404	NM_015719.4(COL5A3):c.3011G>A (p.Gly1004Glu)	COL5A3 (G1004E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596249	NM_015719.4(COL5A3):c.3367C>T (p.Arg1123Trp)	COL5A3 (R1123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592863	NM_015719.4(COL5A3):c.4514C>G (p.Pro1505Arg)	COL5A3 (P1505R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588095	NM_015719.4(COL5A3):c.1285A>T (p.Ile429Phe)	COL5A3 (I429F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568551	NM_015719.4(COL5A3):c.4867G>A (p.Ala1623Thr)	COL5A3 (A1623T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560471	NM_015719.4(COL5A3):c.3220G>A (p.Glu1074Lys)	COL5A3 (E1074K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553760	NM_015719.4(COL5A3):c.1213C>A (p.Pro405Thr)	COL5A3 (P405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551522	NM_015719.4(COL5A3):c.716C>T (p.Pro239Leu)	COL5A3 (P239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549811	NM_015719.4(COL5A3):c.4657C>T (p.His1553Tyr)	COL5A3 (H1553Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547994	NM_015719.4(COL5A3):c.1451T>G (p.Val484Gly)	COL5A3 (V484G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546617	NM_015719.4(COL5A3):c.821G>A (p.Ser274Asn)	COL5A3 (S274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537722	NM_015719.4(COL5A3):c.2963C>T (p.Pro988Leu)	COL5A3 (P988L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537045	NM_015719.4(COL5A3):c.4902C>G (p.Asn1634Lys)	COL5A3 (N1634K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536869	NM_015719.4(COL5A3):c.3865G>A (p.Gly1289Ser)	COL5A3 (G1289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533236	NM_015719.4(COL5A3):c.3881C>T (p.Pro1294Leu)	COL5A3 (P1294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530392	NM_015719.4(COL5A3):c.2575G>C (p.Asp859His)	COL5A3 (D859H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520886	NM_015719.4(COL5A3):c.2135G>T (p.Arg712Leu)	COL5A3 (R712L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519541	NM_015719.4(COL5A3):c.530G>A (p.Arg177His)	COL5A3 (R177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518823	NM_015719.4(COL5A3):c.1567C>T (p.Pro523Ser)	COL5A3 (P523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512753	NM_015719.4(COL5A3):c.1316C>T (p.Pro439Leu)	COL5A3 (P439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488833	NM_015719.4(COL5A3):c.2425G>A (p.Gly809Ser)	COL5A3 (G809S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479655	NM_015719.4(COL5A3):c.4718G>A (p.Arg1573Lys)	COL5A3 (R1573K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477043	NM_015719.4(COL5A3):c.442C>G (p.His148Asp)	COL5A3 (H148D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475719	NM_015719.4(COL5A3):c.394C>T (p.Pro132Ser)	COL5A3 (P132S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470945	NM_015719.4(COL5A3):c.3287C>T (p.Ala1096Val)	COL5A3 (A1096V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468041	NM_015719.4(COL5A3):c.820A>G (p.Ser274Gly)	COL5A3 (S274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467932	NM_015719.4(COL5A3):c.823C>T (p.Pro275Ser)	COL5A3 (P275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466938	NM_015719.4(COL5A3):c.3605G>T (p.Gly1202Val)	COL5A3 (G1202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466452	NM_015719.4(COL5A3):c.3124C>T (p.Arg1042Trp)	COL5A3 (R1042W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461720	NM_015719.4(COL5A3):c.2512C>T (p.Arg838Cys)	COL5A3 (R838C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457253	NM_015719.4(COL5A3):c.1819A>G (p.Arg607Gly)	COL5A3 (R607G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456670	NM_015719.4(COL5A3):c.3529C>T (p.Arg1177Trp)	COL5A3 (R1177W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454360	NM_015719.4(COL5A3):c.220G>A (p.Gly74Ser)	COL5A3 (G74S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411863	NM_015719.4(COL5A3):c.3493G>A (p.Val1165Ile)	COL5A3 (V1165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402665	NM_015719.4(COL5A3):c.89A>T (p.Asp30Val)	COL5A3 (D30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400581	NM_015719.4(COL5A3):c.1793C>T (p.Pro598Leu)	COL5A3 (P598L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390381	NM_015719.4(COL5A3):c.4332T>G (p.Ile1444Met)	COL5A3 (I1444M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386488	NM_015719.4(COL5A3):c.5056G>A (p.Ala1686Thr)	COL5A3 (A1686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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