SAMD14[gene] - ClinVar

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Items: 66

	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 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 3305542	NM_002611.5(PDK2):c.1195A>G (p.Lys399Glu)	PDK2, SAMD14 (K399E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210962	NM_002611.5(PDK2):c.1213C>T (p.Arg405Cys)	PDK2, SAMD14 (R341C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3316083	NM_001257359.2(SAMD14):c.1237G>A (p.Glu413Lys)	SAMD14 (E413K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480550	NM_001257359.2(SAMD14):c.1225C>T (p.Arg409Cys)	SAMD14 (R437C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410742	NM_001257359.2(SAMD14):c.1211G>A (p.Arg404Gln)	SAMD14 (R432Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316080	NM_001257359.2(SAMD14):c.1205G>A (p.Arg402Gln)	SAMD14 (R402Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326655	NM_001257359.2(SAMD14):c.1190A>T (p.Gln397Leu)	SAMD14 (Q397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244553	NM_001257359.2(SAMD14):c.1190A>G (p.Gln397Arg)	SAMD14 (Q397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316088	NM_001257359.2(SAMD14):c.1157T>C (p.Met386Thr)	SAMD14 (M386T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340313	NM_001257359.2(SAMD14):c.1154A>C (p.Glu385Ala)	SAMD14 (E385A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029346	NM_001257359.2(SAMD14):c.1147T>C (p.Leu383=)	SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
Select item 3157644	NM_001257359.2(SAMD14):c.1142G>A (p.Arg381His)	SAMD14 (R381H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281342	NM_001257359.2(SAMD14):c.1064C>T (p.Pro355Leu)	SAMD14 (P355L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037503	NM_001257359.2(SAMD14):c.1021G>A (p.Glu341Lys)	SAMD14 (E341K +1 more)	Single nucleotide variant (missense variant)	SAMD14-related disorder	GLikely benign
Select item 2312590	NM_001257359.2(SAMD14):c.965C>G (p.Pro322Arg)	SAMD14 (P322R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508137	NM_001257359.2(SAMD14):c.964C>A (p.Pro322Thr)	SAMD14 (P350T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253749	NM_001257359.2(SAMD14):c.964C>G (p.Pro322Ala)	SAMD14 (P350A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681529	NM_001257359.2(SAMD14):c.920C>T (p.Thr307Met)	SAMD14 (T307M +1 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2517255	NM_001257359.2(SAMD14):c.823-52T>C	SAMD14 (M302T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157651	NM_001257359.2(SAMD14):c.823-58T>C	SAMD14 (I300T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282759	NM_001257359.2(SAMD14):c.823-60G>C	SAMD14 (Q299H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484691	NM_001257359.2(SAMD14):c.823-64C>T	SAMD14 (T298I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3157650	NM_001257359.2(SAMD14):c.823-65A>T	SAMD14 (T298S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548725	NM_001257359.2(SAMD14):c.823-71G>T	SAMD14 (G296C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157649	NM_001257359.2(SAMD14):c.776G>C (p.Cys259Ser)	SAMD14 (C259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054993	NM_001257359.2(SAMD14):c.771C>G (p.Pro257=)	SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
Select item 3157648	NM_001257359.2(SAMD14):c.764C>G (p.Thr255Ser)	SAMD14 (T255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241844	NM_001257359.2(SAMD14):c.656G>A (p.Gly219Asp)	SAMD14 (G219D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629512	NM_001257359.2(SAMD14):c.568C>T (p.Arg190Ter)	SAMD14 (R190*)	Single nucleotide variant (nonsense)	SAMD14-related disorder	GUncertain significance
Select item 3157647	NM_001257359.2(SAMD14):c.563C>T (p.Thr188Ile)	SAMD14 (T188I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031865	NM_001257359.2(SAMD14):c.552C>A (p.Leu184=)	SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
Select item 3316085	NM_001257359.2(SAMD14):c.523C>G (p.Pro175Ala)	SAMD14 (P175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314755	NM_001257359.2(SAMD14):c.509G>T (p.Arg170Leu)	SAMD14 (R170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316087	NM_001257359.2(SAMD14):c.479G>A (p.Arg160His)	LOC130061143, SAMD14 (R160H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398934	NM_001257359.2(SAMD14):c.478C>A (p.Arg160Ser)	LOC130061143, SAMD14 (R160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637256	NM_001257359.2(SAMD14):c.469C>G (p.Arg157Gly)	LOC130061143, SAMD14 (R157G)	Single nucleotide variant (missense variant)	SAMD14-related disorder +1 more	GUncertain significance
Select item 3316084	NM_001257359.2(SAMD14):c.452C>T (p.Ser151Phe)	LOC130061143, SAMD14 (S151F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045798	NM_001257359.2(SAMD14):c.432C>T (p.Ser144=)	LOC130061143, SAMD14	Single nucleotide variant (synonymous variant)	SAMD14-related disorder	GLikely benign
Select item 3316081	NM_001257359.2(SAMD14):c.389C>T (p.Ser130Leu)	LOC130061143, SAMD14 (S130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325932	NM_001257359.2(SAMD14):c.379A>C (p.Asn127His)	LOC130061143, SAMD14 (N127H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3316086	NM_001257359.2(SAMD14):c.364T>C (p.Tyr122His)	SAMD14 (Y122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157645	NM_001257359.2(SAMD14):c.231C>A (p.Ser77Arg)	SAMD14 (S77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464149	NM_001257359.2(SAMD14):c.191C>T (p.Ser64Leu)	SAMD14 (S64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240760	NM_001257359.2(SAMD14):c.181G>A (p.Gly61Ser)	SAMD14 (G61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487179	NM_001257359.2(SAMD14):c.176A>G (p.Glu59Gly)	SAMD14 (E59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248949	NM_001257359.2(SAMD14):c.133C>T (p.Arg45Trp)	SAMD14 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395398	NM_001257359.2(SAMD14):c.125G>A (p.Arg42Gln)	SAMD14 (R42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157646	NM_001257359.2(SAMD14):c.28G>A (p.Val10Met)	SAMD14 (V10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401018	NM_001257359.2(SAMD14):c.26C>G (p.Pro9Arg)	SAMD14 (P9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063531	GRCh37/hg19 17q21.33(chr17:48176031-48440167)x3	COL1A1, PDK2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2692406	Single allele	ACSF2, COL1A1 +8 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 2692405	Single allele	SAMD14, COL1A1 +4 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 2422330	NC_000017.10:g.(?_48068881)_(48278874_?)del	COL1A1, DLX3 +5 more	Deletion	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 425666	Single allele	PDK2, SGCA +4 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 66