1316[geneid] - ClinVar

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Items: 59

	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 3288835	NM_001300.6(KLF6):c.425C>A (p.Ser142Tyr)	KLF6 (S142Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3288836	NM_001300.6(KLF6):c.37C>G (p.Leu13Val)	KLF6 (L13V)	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	ARL5B, LARP4B +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)	INA, INPP5A +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	A1CF, ABCC2 +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

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Items: 59