24224[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 60170	GRCh38/hg38 17q12(chr17:39365569-39612092)x3	CDK12, FBXL20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 1252879	NM_016507.4(CDK12):c.-105C>T	CDK12, LOC126862553	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1678976	NM_016507.4(CDK12):c.-27T>C	CDK12, LOC126862553	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678977	NM_016507.4(CDK12):c.-20T>C	LOC126862553, CDK12	Single nucleotide variant (5 prime UTR variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2302372	NM_016507.4(CDK12):c.11C>T (p.Ser4Leu)	CDK12, LOC126862553 (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038610	NM_016507.4(CDK12):c.234T>A (p.Ser78=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GBenign
Select item 2460520	NM_016507.4(CDK12):c.260T>C (p.Met87Thr)	CDK12, LOC126862553 (M87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055556	NM_016507.4(CDK12):c.267C>T (p.Phe89=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 1678978	NM_016507.4(CDK12):c.271C>T (p.Leu91=)	LOC126862553, CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 3265413	NM_016507.4(CDK12):c.347A>G (p.His116Arg)	CDK12, LOC126862553 (H116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141473	NM_016507.4(CDK12):c.349A>G (p.Arg117Gly)	CDK12, LOC126862553 (R117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382243	NM_016507.4(CDK12):c.370A>G (p.Lys124Glu)	CDK12, LOC126862553 (K124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042423	NM_016507.4(CDK12):c.384C>T (p.Thr128=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 2300022	NM_016507.4(CDK12):c.424T>A (p.Ser142Thr)	CDK12, LOC126862553 (S142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394452	NM_016507.4(CDK12):c.544G>A (p.Glu182Lys)	CDK12, LOC126862553 (E182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494012	NM_016507.4(CDK12):c.613G>C (p.Glu205Gln)	CDK12, LOC126862553 (E205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141484	NM_016507.4(CDK12):c.632A>C (p.Lys211Thr)	CDK12, LOC126862553 (K211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514454	NM_016507.4(CDK12):c.659C>G (p.Ser220Cys)	CDK12, LOC126862553 (S220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141485	NM_016507.4(CDK12):c.671A>C (p.His224Pro)	CDK12, LOC126862553 (H224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326998	NM_016507.4(CDK12):c.692C>A (p.Ser231Tyr)	CDK12, LOC126862553 (S231Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1250047	NM_016507.4(CDK12):c.714G>A (p.Ser238=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 3265425	NM_016507.4(CDK12):c.731A>C (p.Gln244Pro)	CDK12, LOC126862553 (Q244P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541189	NM_016507.4(CDK12):c.758C>G (p.Ser253Cys)	CDK12, LOC126862553 (S253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678980	NM_016507.4(CDK12):c.807C>T (p.Thr269=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2621346	NM_016507.4(CDK12):c.859T>C (p.Ser287Pro)	CDK12, LOC126862553 (S287P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035867	NM_016507.4(CDK12):c.912C>G (p.Pro304=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 1678981	NM_016507.4(CDK12):c.966A>G (p.Arg322=)	CDK12, LOC126862553	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1283081	NM_016507.4(CDK12):c.1047-169G>A	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3257848	NM_016507.4(CDK12):c.1139G>A (p.Arg380His)	CDK12 (R380H)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3040105	NM_016507.4(CDK12):c.1248T>C (p.Asp416=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 2530162	NM_016507.4(CDK12):c.1264G>A (p.Gly422Ser)	CDK12 (G422S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265415	NM_016507.4(CDK12):c.1277T>A (p.Phe426Tyr)	CDK12 (F426Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141469	NM_016507.4(CDK12):c.1294A>C (p.Asn432His)	CDK12 (N432H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678982	NM_016507.4(CDK12):c.1302A>G (p.Ser434=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 2459015	NM_016507.4(CDK12):c.1387G>A (p.Val463Met)	CDK12 (V463M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459360	NM_016507.4(CDK12):c.1400A>G (p.His467Arg)	CDK12 (H467R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265417	NM_016507.4(CDK12):c.1424C>T (p.Ser475Phe)	CDK12 (S475F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567659	NM_016507.4(CDK12):c.1469A>G (p.His490Arg)	CDK12 (H490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238972	NM_016507.4(CDK12):c.1513C>T (p.Pro505Ser)	CDK12 (P505S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 133870	NM_016507.4(CDK12):c.1579C>A (p.Pro527Thr)	CDK12 (P527T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2274004	NM_016507.4(CDK12):c.1640A>C (p.Gln547Pro)	CDK12 (Q547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 133868	NM_016507.4(CDK12):c.1705_1707del (p.Ser569del)	CDK12 (S569del)	Deletion (inframe_deletion)	not specified	Gnot provided
Select item 2393954	NM_016507.4(CDK12):c.1705T>C (p.Ser569Pro)	CDK12 (S569P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265419	NM_016507.4(CDK12):c.1783G>C (p.Val595Leu)	CDK12 (V595L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265418	NM_016507.4(CDK12):c.1792C>G (p.Gln598Glu)	CDK12 (Q598E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042823	NM_016507.4(CDK12):c.1815A>G (p.Val605=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 133869	NM_016507.4(CDK12):c.1855A>G (p.Ile619Val)	CDK12 (I619V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2316861	NM_016507.4(CDK12):c.1863C>A (p.His621Gln)	CDK12 (H621Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 133871	NM_016507.4(CDK12):c.1913G>C (p.Gly638Ala)	CDK12 (G638A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 1283608	NM_016507.4(CDK12):c.1932-221T>C	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280676	NM_016507.4(CDK12):c.1932-181dup	CDK12	Duplication (intron variant)	not provided	GBenign
Select item 1678983	NM_016507.4(CDK12):c.1932-47C>T	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 133872	NM_016507.4(CDK12):c.1988G>A (p.Arg663His)	CDK12 (R663H)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2340206	NM_016507.4(CDK12):c.2011C>T (p.Leu671Phe)	CDK12 (L671F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610635	NM_016507.4(CDK12):c.2047C>T (p.Pro683Ser)	CDK12 (P683S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495350	NM_016507.4(CDK12):c.2057C>T (p.Pro686Leu)	CDK12 (P686L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256806	NM_016507.4(CDK12):c.2108+56T>A	CDK12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1678984	NM_016507.4(CDK12):c.2248+61T>G	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1281205	NM_016507.4(CDK12):c.2248+276G>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267414	NM_016507.4(CDK12):c.2248+291_2248+292dup	CDK12	Duplication (intron variant)	not provided	GBenign
Select item 1227497	NM_016507.4(CDK12):c.2249-208G>A	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678985	NM_016507.4(CDK12):c.2249-36C>T	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678986	NM_016507.4(CDK12):c.2249-32T>C	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1230371	NM_016507.4(CDK12):c.2420-33dup	CDK12	Duplication (intron variant)	not provided	GBenign
Select item 2486722	NM_016507.4(CDK12):c.2626G>A (p.Ala876Thr)	CDK12 (A876T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 431025	NM_016507.4(CDK12):c.2636G>T (p.Gly879Val)	CDK12 (G879V)	Single nucleotide variant (missense variant)	Lung adenocarcinoma	GLikely pathogenic
Select item 3257762	NM_016507.4(CDK12):c.2644C>T (p.Arg882Trp)	CDK12 (R882W)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 1288218	NM_016507.4(CDK12):c.2666+17A>C	CDK12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1678987	NM_016507.4(CDK12):c.2667-80T>C	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1678988	NM_016507.4(CDK12):c.2667-12T>A	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3257770	NM_016507.4(CDK12):c.2760G>A (p.Trp920Ter)	CDK12 (W920*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 1229490	NM_016507.4(CDK12):c.2769-74G>A	CDK12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1678989	NM_016507.4(CDK12):c.2846+44A>G	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1282732	NM_016507.4(CDK12):c.2846+157G>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678990	NM_016507.4(CDK12):c.2847-48G>C	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3039024	NM_016507.4(CDK12):c.2892C>A (p.Ile964=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 1253213	NM_016507.4(CDK12):c.2963+111T>A	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247596	NM_016507.4(CDK12):c.2963+133G>A	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246457	NM_016507.4(CDK12):c.2963+252T>C	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678991	NM_016507.4(CDK12):c.2964-84G>A	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 133856	NM_016507.4(CDK12):c.2964C>T (p.Phe988=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2306550	NM_016507.4(CDK12):c.2980C>G (p.Leu994Val)	CDK12 (L994V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554234	NM_016507.4(CDK12):c.3017G>A (p.Ser1006Asn)	CDK12 (S1006N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678992	NM_016507.4(CDK12):c.3024G>T (p.Arg1008=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3034908	NM_016507.4(CDK12):c.3051C>T (p.Ser1017=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 3028958	NM_016507.4(CDK12):c.3075C>T (p.Leu1025=)	CDK12	Single nucleotide variant (synonymous variant)	CDK12-related disorder	GLikely benign
Select item 2621453	NM_016507.4(CDK12):c.3088C>T (p.Pro1030Ser)	CDK12 (P1030S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257779	NM_016507.4(CDK12):c.3109C>T (p.Gln1037Ter)	CDK12 (Q1037*)	Single nucleotide variant (nonsense)	Neoplasm	OLikely oncogenic
Select item 1678993	NM_016507.4(CDK12):c.3286T>C (p.Ser1096Pro)	CDK12 (S1096P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3141472	NM_016507.4(CDK12):c.3302C>T (p.Ala1101Val)	CDK12 (A1101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248169	NM_016507.4(CDK12):c.3307+194C>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289214	NM_016507.4(CDK12):c.3308-116C>T	CDK12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678994	NM_016507.4(CDK12):c.3308-26A>G	CDK12	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely benign
Select item 1678995	NM_016507.4(CDK12):c.3315T>C (p.Ala1105=)	CDK12	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 133857	NM_016507.4(CDK12):c.3391A>G (p.Ile1131Val)	CDK12 (I1131V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 3265416	NM_016507.4(CDK12):c.3482C>T (p.Thr1161Met)	CDK12 (T1161M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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