ClinVar for Gene (Select 80129) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264069	NM_025059.4(CCDC170):c.830T>C (p.Phe277Ser)	CCDC170 (F277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264068	NM_025059.4(CCDC170):c.2129A>T (p.His710Leu)	CCDC170 (H710L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264067	NM_025059.4(CCDC170):c.94C>G (p.Arg32Gly)	CCDC170 (R32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264065	NM_025059.4(CCDC170):c.472A>G (p.Lys158Glu)	CCDC170 (K158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138823	NM_025059.4(CCDC170):c.853C>G (p.Gln285Glu)	CCDC170 (Q285E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138821	NM_025059.4(CCDC170):c.526C>T (p.Arg176Cys)	CCDC170 (R176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138820	NM_025059.4(CCDC170):c.50C>T (p.Ala17Val)	CCDC170 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138819	NM_025059.4(CCDC170):c.236A>C (p.Glu79Ala)	CCDC170 (E79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138818	NM_025059.4(CCDC170):c.197T>A (p.Leu66His)	CCDC170 (L66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138817	NM_025059.4(CCDC170):c.194A>C (p.Asp65Ala)	CCDC170 (D65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138816	NM_025059.4(CCDC170):c.1913A>T (p.Lys638Ile)	CCDC170 (K638I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138815	NM_025059.4(CCDC170):c.1655G>T (p.Cys552Phe)	CCDC170 (C552F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138814	NM_025059.4(CCDC170):c.1303T>C (p.Phe435Leu)	CCDC170 (F435L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138812	NM_025059.4(CCDC170):c.1071C>A (p.Ser357Arg)	CCDC170 (S357R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2673085	NM_025059.4(CCDC170):c.2076C>G (p.Thr692=)	CCDC170	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2606699	NM_025059.4(CCDC170):c.692C>T (p.Thr231Met)	CCDC170 (T231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599051	NM_025059.4(CCDC170):c.1265G>A (p.Arg422Gln)	CCDC170 (R422Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590937	NM_025059.4(CCDC170):c.1369C>T (p.Arg457Trp)	CCDC170 (R457W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589421	NM_025059.4(CCDC170):c.1196A>G (p.Asn399Ser)	CCDC170 (N399S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2547447	NM_025059.4(CCDC170):c.601C>A (p.Arg201Ser)	CCDC170 (R201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529731	NM_025059.4(CCDC170):c.1675C>T (p.Leu559Phe)	CCDC170 (L559F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476354	NM_025059.4(CCDC170):c.344T>C (p.Leu115Pro)	CCDC170 (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468175	NM_025059.4(CCDC170):c.1522C>T (p.Arg508Trp)	CCDC170 (R508W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467478	NM_025059.4(CCDC170):c.1860A>C (p.Glu620Asp)	CCDC170 (E620D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388361	NM_025059.4(CCDC170):c.1073G>A (p.Arg358Gln)	CCDC170 (R358Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381725	NM_025059.4(CCDC170):c.1565C>T (p.Thr522Met)	CCDC170 (T522M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379885	NM_025059.4(CCDC170):c.50C>A (p.Ala17Glu)	CCDC170 (A17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374902	NM_025059.4(CCDC170):c.1097T>C (p.Val366Ala)	CCDC170 (V366A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361839	NM_025059.4(CCDC170):c.12C>A (p.Asp4Glu)	CCDC170 (D4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354677	NM_025059.4(CCDC170):c.1840G>A (p.Glu614Lys)	CCDC170 (E614K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335674	NM_025059.4(CCDC170):c.1492G>C (p.Glu498Gln)	CCDC170 (E498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310955	NM_025059.4(CCDC170):c.349A>G (p.Thr117Ala)	CCDC170 (T117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288619	NM_025059.4(CCDC170):c.91A>G (p.Thr31Ala)	CCDC170 (T31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287053	NM_025059.4(CCDC170):c.736G>T (p.Ala246Ser)	CCDC170 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256052	NM_025059.4(CCDC170):c.1064T>C (p.Met355Thr)	CCDC170 (M355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253920	NM_025059.4(CCDC170):c.2026A>T (p.Ile676Phe)	CCDC170 (I676F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248392	NM_025059.4(CCDC170):c.1966G>T (p.Val656Leu)	CCDC170 (V656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241252	NM_025059.4(CCDC170):c.1230C>A (p.His410Gln)	CCDC170 (H410Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223265	NM_025059.4(CCDC170):c.444A>C (p.Gln148His)	CCDC170 (Q148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220541	NM_025059.4(CCDC170):c.746G>A (p.Cys249Tyr)	CCDC170 (C249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214460	NM_025059.4(CCDC170):c.292C>T (p.Leu98Phe)	CCDC170 (L98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214445	NM_025059.4(CCDC170):c.1594C>T (p.His532Tyr)	CCDC170 (H532Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208401	NM_025059.4(CCDC170):c.59A>G (p.Glu20Gly)	CCDC170 (E20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207286	NM_025059.4(CCDC170):c.755A>G (p.Glu252Gly)	CCDC170 (E252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263708	NM_025059.4(CCDC170):c.*566C>T	CCDC170	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 993917	NM_025059.4(CCDC170):c.1033G>A (p.Glu345Lys)	CCDC170 (E345K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 980798	GRCh37/hg19 6q25.1(chr6:151853881-151913911)x1	CCDC170	Copy number loss	not provided	GUncertain significance
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 810049	GRCh37/hg19 6q25.1(chr6:151742378-151869624)x1	ARMT1, CCDC170 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 792060	NM_025059.4(CCDC170):c.1844C>A (p.Ala615Asp)	CCDC170 (A615D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768116	NM_025059.4(CCDC170):c.1437C>A (p.Asn479Lys)	CCDC170 (N479K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710997	NM_025059.4(CCDC170):c.1178G>A (p.Arg393Lys)	CCDC170 (R393K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 563241	GRCh37/hg19 6q25.1(chr6:151757959-151904507)x1	RMND1, CCDC170 +1 more	Copy number loss	not provided	GUncertain significance
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 394905	GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)x1	ADGB, AKAP12 +42 more	Copy number loss	See cases	GPathogenic
Select item 155878	NC_000006.12:g.151630085A>G	CCDC170	Single nucleotide variant	Estrogen resistance syndrome	GUncertain significance
Select item 155877	NC_000006.12:g.151627231G>A	CCDC170	Single nucleotide variant	not specified	GBenign
Select item 155876	NC_000006.12:g.151625494T>A	CCDC170	Single nucleotide variant	Estrogen resistance syndrome	GUncertain significance
Select item 155875	NM_025059.4(CCDC170):c.*978A>G	CCDC170	Single nucleotide variant (3 prime UTR variant)	Estrogen resistance syndrome	GUncertain significance
Select item 155874	NM_025059.4(CCDC170):c.*68A>C	CCDC170	Single nucleotide variant (3 prime UTR variant)	Estrogen resistance syndrome	GUncertain significance
Select item 155873	NM_025059.4(CCDC170):c.1810G>A (p.Val604Ile)	CCDC170 (V604I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 155872	NM_025059.4(CCDC170):c.1710+1144T>G	CCDC170	Single nucleotide variant (intron variant)	Estrogen resistance syndrome	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 59801	GRCh38/hg38 6q25.1(chr6:151369093-151518210)x3	ARMT1, CCDC170 +10 more	Copy number gain	See cases	GBenign
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76