KDM1B[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 2270389	NM_001364614.2(KDM1B):c.80G>C (p.Gly27Ala)	KDM1B (G27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291981	NM_001364614.2(KDM1B):c.89C>T (p.Ala30Val)	KDM1B (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784064	NM_001364614.2(KDM1B):c.104C>T (p.Thr35Ile)	KDM1B (T35I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2495991	NM_001364614.2(KDM1B):c.109A>G (p.Thr37Ala)	KDM1B (T37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398319	NM_001364614.2(KDM1B):c.345A>C (p.Lys115Asn)	KDM1B (K115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113705	NM_001364614.2(KDM1B):c.419T>C (p.Val140Ala)	KDM1B (V140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493087	NM_001364614.2(KDM1B):c.439T>A (p.Cys147Ser)	KDM1B (C147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113706	NM_001364614.2(KDM1B):c.1036G>A (p.Val346Ile)	KDM1B (V346I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247801	NM_001364614.2(KDM1B):c.1158C>G (p.Ile386Met)	KDM1B (I254M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287873	NM_001364614.2(KDM1B):c.1174C>G (p.Pro392Ala)	KDM1B (P260A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113707	NM_001364614.2(KDM1B):c.1204C>T (p.His402Tyr)	KDM1B (H270Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284706	NM_001364614.2(KDM1B):c.1222G>A (p.Val408Met)	KDM1B (V276M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468390	NM_001364614.2(KDM1B):c.1739C>T (p.Ser580Leu)	KDM1B (S580L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387883	NM_001364614.2(KDM1B):c.1822G>C (p.Val608Leu)	KDM1B (V376L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287874	NM_001364614.2(KDM1B):c.1849G>A (p.Gly617Arg)	KDM1B (G385R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334818	NM_001364614.2(KDM1B):c.2174A>G (p.Asp725Gly)	KDM1B, LOC129995932 (D493G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113699	NM_001364614.2(KDM1B):c.2186T>C (p.Val729Ala)	KDM1B, LOC129995932 (V497A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551115	NM_001364614.2(KDM1B):c.2207C>T (p.Thr736Met)	KDM1B, LOC129995932 (T736M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113700	NM_001364614.2(KDM1B):c.2213G>A (p.Arg738Gln)	KDM1B, LOC129995932 (R506Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113701	NM_001364614.2(KDM1B):c.2223C>G (p.Phe741Leu)	KDM1B (F509L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266625	NM_001364614.2(KDM1B):c.2225A>G (p.Lys742Arg)	KDM1B (K510R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775230	NM_001364614.2(KDM1B):c.2233-8G>C	KDM1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3113702	NM_001364614.2(KDM1B):c.2276C>T (p.Thr759Ile)	KDM1B (T527I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113704	NM_001364614.2(KDM1B):c.2437G>A (p.Val813Ile)	KDM1B (V813I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484898	NM_001364614.2(KDM1B):c.2450G>A (p.Ser817Asn)	KDM1B (S817N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062930	GRCh37/hg19 6p22.3(chr6:18012026-18313034)x1	DEK, KDM1B +2 more	Copy number loss	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 979712	GRCh37/hg19 6p22.3(chr6:18184925-18351530)x1	DEK, KDM1B	Copy number loss	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	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 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253699	GRCh37/hg19 6p22.3(chr6:17637157-18931615)x3	TPMT, NHLRC1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic

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Items: 42