1316[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 132784	NM_001300.6(KLF6):c.*62G>A	KLF6	Single nucleotide variant (3 prime UTR variant +1 more)	Hypotension	Gnot provided
Select item 132783	NM_001300.6(KLF6):c.*46A>T	KLF6	Single nucleotide variant (3 prime UTR variant +1 more)	Hypotension	Gnot provided
Select item 132788	NM_001300.6(KLF6):c.800+34G>A	KLF6	Single nucleotide variant (intron variant)	Hypotension	Gnot provided
Select item 132787	NM_001300.6(KLF6):c.800+21C>T	KLF6	Single nucleotide variant (intron variant)	Hypotension	Gnot provided
Select item 1326867	NM_001300.6(KLF6):c.677-2A>G	KLF6	Single nucleotide variant (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 133350	NM_001300.6(KLF6):c.676+106G>A	KLF6	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133351	NM_001300.6(KLF6):c.676+61C>T	KLF6	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 133352	NM_001300.6(KLF6):c.676+28C>T	KLF6	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 132786	NM_001300.6(KLF6):c.603G>A (p.Arg201=)	KLF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 773788	NM_001300.6(KLF6):c.594G>A (p.Arg198=)	KLF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 7573	NM_001300.6(KLF6):c.506T>C (p.Leu169Pro)	KLF6 (L169P)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, somatic	GPathogenic
Select item 132785	NM_001300.6(KLF6):c.496C>T (p.Pro166Ser)	KLF6 (P166S)	Single nucleotide variant (missense variant +1 more)	Hypotension	Gnot provided
Select item 134634	NM_001300.6(KLF6):c.493G>A (p.Val165Met)	KLF6 (V165M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 7574	NM_001300.6(KLF6):c.465C>A (p.Ser155Arg)	KLF6 (S155R)	Single nucleotide variant (missense variant +1 more)	Gastric cancer	GPathogenic
Select item 3115346	NM_001300.6(KLF6):c.434C>T (p.Thr145Ile)	KLF6 (T145I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 134633	NM_001300.6(KLF6):c.428C>T (p.Ser143Phe)	KLF6 (S143F)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 7570	NM_001300.6(KLF6):c.410C>A (p.Ser137Ter)	KLF6 (S137*)	Single nucleotide variant (nonsense +1 more)	Prostate cancer, somatic	GPathogenic
Select item 7571	NM_001300.6(KLF6):c.368C>A (p.Ala123Asp)	KLF6 (A123D)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, somatic	GPathogenic
Select item 7569	NM_001300.6(KLF6):c.346T>C (p.Ser116Pro)	KLF6 (S116P)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, somatic	GPathogenic
Select item 134632	NM_001300.6(KLF6):c.276C>A (p.Ser92Arg)	KLF6 (S92R)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 717974	NM_001300.6(KLF6):c.231C>T (p.Ser77=)	KLF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 7572	NM_001300.6(KLF6):c.190T>C (p.Trp64Arg)	KLF6 (W64R)	Single nucleotide variant (missense variant +1 more)	Prostate cancer, somatic	GPathogenic
Select item 1679191	NM_001300.6(KLF6):c.103-1G>C	KLF6	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 2544297	NM_001300.6(KLF6):c.77C>A (p.Pro26Gln)	KLF6 (P26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250142	NM_001300.6(KLF6):c.23G>C (p.Ser8Thr)	KLF6 (S8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1339885	GRCh37/hg19 10p15.3-15.1(chr10:100027-5071398)x1	ADARB2, AKR1C1 +12 more	Copy number loss	10p15.3 microdeletion syndrome	Gnot provided
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1330170	GRCh37/hg19 10p15.3-15.1(chr10:60501-5238964)x1	ADARB2, AKR1C1 +15 more	Copy number loss	Neurooculocardiogenitourinary syndrome	GPathogenic
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 815309	GRCh37/hg19 10p15.3-15.1(chr10:100026-4433206)x3	IDI2, PFKP +9 more	Copy number gain	not provided	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442761	GRCh37/hg19 10p15.3-15.1(chr10:100026-4853435)x3	ADARB2, DIP2C +9 more	Copy number gain	See cases	GUncertain significance
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441537	GRCh37/hg19 10p15.3-15.1(chr10:100026-4761588)x1	LARP4B, IDI2 +9 more	Copy number loss	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic
Select item 202235	GRCh37/hg19 10p15.3-15.1(chr10:138878-5160945)x3	IDI2, KLF6 +13 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 57