COL16A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 2276562	NM_001856.4(COL16A1):c.4567A>G (p.Ile1523Val)	COL16A1, PEF1-AS1 (I1523V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268555	NM_001856.4(COL16A1):c.4493A>C (p.Gln1498Pro)	COL16A1, PEF1-AS1 (Q1498P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464182	NM_001856.4(COL16A1):c.4421G>T (p.Arg1474Leu)	COL16A1, PEF1-AS1 (R1474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147278	NM_001856.4(COL16A1):c.4261C>T (p.Pro1421Ser)	COL16A1, PEF1-AS1 (P1421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236733	NM_001856.4(COL16A1):c.4179G>C (p.Lys1393Asn)	COL16A1, PEF1-AS1 (K1393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268566	NM_001856.4(COL16A1):c.4154C>T (p.Ala1385Val)	COL16A1, PEF1-AS1 (A1385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215547	NM_001856.4(COL16A1):c.4096C>A (p.Pro1366Thr)	COL16A1, PEF1-AS1 (P1366T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599646	NM_001856.4(COL16A1):c.4000C>T (p.Pro1334Ser)	COL16A1, PEF1-AS1 (P1334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147277	NM_001856.4(COL16A1):c.3956C>T (p.Thr1319Ile)	COL16A1, PEF1-AS1 (T1319I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147276	NM_001856.4(COL16A1):c.3947G>A (p.Arg1316Gln)	COL16A1, PEF1-AS1 (R1316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147275	NM_001856.4(COL16A1):c.3928G>T (p.Val1310Leu)	COL16A1, PEF1-AS1 (V1310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376839	NM_001856.4(COL16A1):c.3905C>T (p.Pro1302Leu)	COL16A1, PEF1-AS1 (P1302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147274	NM_001856.4(COL16A1):c.3869C>T (p.Pro1290Leu)	COL16A1 (P1290L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268556	NM_001856.4(COL16A1):c.3860C>T (p.Pro1287Leu)	COL16A1 (P1287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615674	NM_001856.4(COL16A1):c.3725C>T (p.Pro1242Leu)	COL16A1 (P1242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388972	NM_001856.4(COL16A1):c.3717G>A (p.Met1239Ile)	COL16A1 (M1239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147273	NM_001856.4(COL16A1):c.3678G>C (p.Leu1226Phe)	COL16A1 (L1226F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269892	NM_001856.4(COL16A1):c.3652G>T (p.Asp1218Tyr)	COL16A1 (D1218Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147272	NM_001856.4(COL16A1):c.3592G>C (p.Gly1198Arg)	COL16A1 (G1198R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267719	NM_001856.4(COL16A1):c.3572G>A (p.Arg1191Gln)	COL16A1 (R1191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147271	NM_001856.4(COL16A1):c.3533C>T (p.Pro1178Leu)	COL16A1 (P1178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147270	NM_001856.4(COL16A1):c.3508C>T (p.Pro1170Ser)	COL16A1 (P1170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147269	NM_001856.4(COL16A1):c.3451G>A (p.Asp1151Asn)	COL16A1 (D1151N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268557	NM_001856.4(COL16A1):c.3385G>A (p.Gly1129Ser)	COL16A1 (G1129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328533	NM_001856.4(COL16A1):c.3373G>A (p.Glu1125Lys)	COL16A1 (E1125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147268	NM_001856.4(COL16A1):c.3293C>T (p.Pro1098Leu)	COL16A1 (P1098L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530353	NM_001856.4(COL16A1):c.3221C>T (p.Thr1074Met)	COL16A1 (T1074M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527785	NM_001856.4(COL16A1):c.3208G>C (p.Glu1070Gln)	COL16A1 (E1070Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304791	NM_001856.4(COL16A1):c.3169G>A (p.Gly1057Ser)	COL16A1 (G1057S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377102	NM_001856.4(COL16A1):c.3131C>T (p.Pro1044Leu)	COL16A1 (P1044L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147267	NM_001856.4(COL16A1):c.3110C>T (p.Pro1037Leu)	COL16A1 (P1037L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276779	NM_001856.4(COL16A1):c.2996G>A (p.Arg999His)	COL16A1 (R999H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290010	NM_001856.4(COL16A1):c.2987C>T (p.Ser996Leu)	COL16A1 (S996L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544378	NM_001856.4(COL16A1):c.2971G>C (p.Ala991Pro)	COL16A1 (A991P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327506	NM_001856.4(COL16A1):c.2971G>T (p.Ala991Ser)	COL16A1 (A991S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715549	NM_001856.4(COL16A1):c.2708C>A (p.Pro903Gln)	COL16A1 (P903Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3268559	NM_001856.4(COL16A1):c.2693G>A (p.Gly898Asp)	COL16A1 (G898D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613949	NM_001856.4(COL16A1):c.2668C>T (p.Pro890Ser)	COL16A1, LOC126805685 (P890S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147266	NM_001856.4(COL16A1):c.2667G>A (p.Met889Ile)	COL16A1, LOC126805685 (M889I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147265	NM_001856.4(COL16A1):c.2653A>G (p.Ile885Val)	COL16A1, LOC126805685 (I885V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382056	NM_001856.4(COL16A1):c.2650C>T (p.Leu884Phe)	COL16A1, LOC126805685 (L884F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147264	NM_001856.4(COL16A1):c.2636C>A (p.Pro879His)	COL16A1, LOC126805685 (P879H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612454	NM_001856.4(COL16A1):c.2605G>C (p.Glu869Gln)	COL16A1, LOC126805685 (E869Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540746	NM_001856.4(COL16A1):c.2521A>G (p.Ser841Gly)	COL16A1 (S841G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315099	NM_001856.4(COL16A1):c.2507G>C (p.Gly836Ala)	COL16A1 (G836A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339088	NM_001856.4(COL16A1):c.2460G>T (p.Lys820Asn)	COL16A1 (K820N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334484	NM_001856.4(COL16A1):c.2416G>A (p.Gly806Arg)	COL16A1 (G806R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268558	NM_001856.4(COL16A1):c.2396C>T (p.Pro799Leu)	COL16A1 (P799L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147263	NM_001856.4(COL16A1):c.2305G>A (p.Val769Ile)	COL16A1 (V769I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513239	NM_001856.4(COL16A1):c.2281C>A (p.Pro761Thr)	COL16A1 (P761T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268554	NM_001856.4(COL16A1):c.2270G>A (p.Arg757Gln)	COL16A1 (R757Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268565	NM_001856.4(COL16A1):c.2257G>A (p.Glu753Lys)	COL16A1 (E753K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588474	NM_001856.4(COL16A1):c.2251G>A (p.Gly751Ser)	COL16A1 (G751S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395301	NM_001856.4(COL16A1):c.2221C>A (p.Pro741Thr)	COL16A1 (P741T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147262	NM_001856.4(COL16A1):c.2219G>A (p.Arg740Gln)	COL16A1 (R740Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364913	NM_001856.4(COL16A1):c.2206G>A (p.Asp736Asn)	COL16A1 (D736N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340713	NM_001856.4(COL16A1):c.2147C>T (p.Pro716Leu)	COL16A1 (P716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268561	NM_001856.4(COL16A1):c.2146C>T (p.Pro716Ser)	COL16A1 (P716S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147261	NM_001856.4(COL16A1):c.2141C>T (p.Ala714Val)	COL16A1 (A714V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293908	NM_001856.4(COL16A1):c.2141C>G (p.Ala714Gly)	COL16A1 (A714G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638604	NM_001856.4(COL16A1):c.2133G>A (p.Gln711=)	COL16A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3268564	NM_001856.4(COL16A1):c.2132A>G (p.Gln711Arg)	COL16A1 (Q711R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147260	NM_001856.4(COL16A1):c.2119G>A (p.Glu707Lys)	COL16A1 (E707K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454345	NM_001856.4(COL16A1):c.2038C>A (p.Leu680Met)	COL16A1 (L680M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307307	NM_001856.4(COL16A1):c.2023G>A (p.Ala675Thr)	COL16A1 (A675T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147259	NM_001856.4(COL16A1):c.1888G>A (p.Glu630Lys)	COL16A1 (E630K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217141	NM_001856.4(COL16A1):c.1780G>A (p.Val594Ile)	COL16A1 (V594I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513536	NM_001856.4(COL16A1):c.1775C>T (p.Ala592Val)	COL16A1 (A592V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394722	NM_001856.4(COL16A1):c.1754T>C (p.Leu585Pro)	COL16A1 (L585P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523508	NM_001856.4(COL16A1):c.1687G>T (p.Val563Leu)	COL16A1 (V563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219041	NM_001856.4(COL16A1):c.1667G>A (p.Cys556Tyr)	COL16A1 (C556Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359261	NM_001856.4(COL16A1):c.1638A>C (p.Gln546His)	COL16A1 (Q546H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147258	NM_001856.4(COL16A1):c.1564G>C (p.Gly522Arg)	COL16A1 (G522R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204122	NM_001856.4(COL16A1):c.1510G>T (p.Gly504Cys)	COL16A1 (G504C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268562	NM_001856.4(COL16A1):c.1471G>T (p.Gly491Cys)	COL16A1 (G491C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268560	NM_001856.4(COL16A1):c.1428G>C (p.Lys476Asn)	COL16A1 (K476N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402787	NM_001856.4(COL16A1):c.1427A>G (p.Lys476Arg)	COL16A1 (K476R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147257	NM_001856.4(COL16A1):c.1424C>T (p.Pro475Leu)	COL16A1 (P475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292166	NM_001856.4(COL16A1):c.1378A>G (p.Ile460Val)	COL16A1 (I460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775528	NM_001856.4(COL16A1):c.1258-5C>G	COL16A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2529300	NM_001856.4(COL16A1):c.1212G>C (p.Lys404Asn)	COL16A1 (K404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771840	NM_001856.4(COL16A1):c.1193A>G (p.Lys398Arg)	COL16A1 (K398R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3147256	NM_001856.4(COL16A1):c.1189G>A (p.Glu397Lys)	COL16A1 (E397K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487451	NM_001856.4(COL16A1):c.1178G>A (p.Gly393Asp)	COL16A1 (G393D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268276	NM_001856.4(COL16A1):c.1162C>T (p.Pro388Ser)	COL16A1 (P388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472975	NM_001856.4(COL16A1):c.1157T>C (p.Leu386Pro)	COL16A1 (L386P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554594	NM_001856.4(COL16A1):c.1153G>A (p.Ala385Thr)	COL16A1 (A385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335681	NM_001856.4(COL16A1):c.1139A>G (p.Lys380Arg)	COL16A1 (K380R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147255	NM_001856.4(COL16A1):c.1130A>G (p.Lys377Arg)	COL16A1 (K377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464407	NM_001856.4(COL16A1):c.1127C>T (p.Pro376Leu)	COL16A1 (P376L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346805	NM_001856.4(COL16A1):c.1069C>T (p.Arg357Trp)	COL16A1 (R357W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782078	NM_001856.4(COL16A1):c.982-10G>A	COL16A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3147282	NM_001856.4(COL16A1):c.829C>T (p.Arg277Cys)	COL16A1 (R277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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