79823[Gene ID] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58366	GRCh38/hg38 2p21(chr2:44286091-44372899)x1	CAMKMT, LOC126806204 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3136826	NM_024766.5(CAMKMT):c.19G>C (p.Asp7His)	CAMKMT, LOC126806204 (D7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455984	NM_024766.5(CAMKMT):c.29C>T (p.Thr10Ile)	CAMKMT, LOC126806204 (T10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593671	NM_024766.5(CAMKMT):c.31G>A (p.Gly11Ser)	CAMKMT, LOC126806204 (G11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392386	NM_024766.5(CAMKMT):c.46G>A (p.Ala16Thr)	CAMKMT, LOC126806204 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228176	NM_024766.5(CAMKMT):c.94G>A (p.Val32Ile)	CAMKMT, LOC126806204 (V32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136824	NM_024766.5(CAMKMT):c.104C>G (p.Pro35Arg)	CAMKMT, LOC126806204 (P35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136825	NM_024766.5(CAMKMT):c.118C>G (p.Arg40Gly)	CAMKMT, LOC126806204 (R40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338365	NM_024766.5(CAMKMT):c.176A>T (p.His59Leu)	CAMKMT (H59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263027	NM_024766.5(CAMKMT):c.184G>A (p.Val62Ile)	CAMKMT (V62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347183	NM_024766.5(CAMKMT):c.314A>G (p.His105Arg)	CAMKMT (H105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348456	NM_024766.5(CAMKMT):c.316A>C (p.Asn106His)	CAMKMT (N106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296630	NM_024766.5(CAMKMT):c.343G>T (p.Val115Phe)	CAMKMT (V115F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150841	GRCh38/hg38 2p21(chr2:44437294-44688253)x1	CAMKMT, LOC122757930 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2240228	NM_024766.5(CAMKMT):c.385C>T (p.Pro129Ser)	CAMKMT (P129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263028	NM_024766.5(CAMKMT):c.440C>A (p.Ala147Asp)	CAMKMT (A147D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341498	NM_024766.5(CAMKMT):c.487C>T (p.Leu163Phe)	CAMKMT (L163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403366	NM_024766.5(CAMKMT):c.514A>G (p.Lys172Glu)	CAMKMT (K172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608807	NM_024766.5(CAMKMT):c.559G>T (p.Val187Leu)	CAMKMT (V187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258276	NM_024766.5(CAMKMT):c.564A>T (p.Gln188His)	CAMKMT (Q188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136827	NM_024766.5(CAMKMT):c.575C>T (p.Thr192Ile)	CAMKMT (T192I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616660	NM_024766.5(CAMKMT):c.595G>A (p.Val199Met)	CAMKMT (V199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317581	NM_024766.5(CAMKMT):c.632G>A (p.Arg211Gln)	CAMKMT (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269161	NM_024766.5(CAMKMT):c.649G>T (p.Asp217Tyr)	CAMKMT (D217Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136828	NM_024766.5(CAMKMT):c.650A>G (p.Asp217Gly)	CAMKMT (D217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221136	NM_024766.5(CAMKMT):c.724A>G (p.Ser242Gly)	CAMKMT (S242G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723611	NM_024766.5(CAMKMT):c.771G>A (p.Ala257=)	CAMKMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486197	NM_024766.5(CAMKMT):c.797A>G (p.Asn266Ser)	CAMKMT (N266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136829	NM_024766.5(CAMKMT):c.799A>G (p.Thr267Ala)	CAMKMT (T267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263029	NM_024766.5(CAMKMT):c.842G>C (p.Cys281Ser)	CAMKMT (C281S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 724756	NM_024766.5(CAMKMT):c.846C>T (p.Ile282=)	CAMKMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735251	NM_024766.5(CAMKMT):c.912G>A (p.Pro304=)	CAMKMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412055	NM_024766.5(CAMKMT):c.918A>G (p.Ile306Met)	CAMKMT (I306M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247230	NC_000002.11:g.(?_44001278)_(45236249_?)del	ABCG5, ABCG8 +8 more	Deletion	Holoprosencephaly 2	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526507	GRCh37/hg19 2p21(chr2:44529426-44604016)	CAMKMT, PREPL +1 more	Copy number loss	not specified	GUncertain significance
Select item 1526496	GRCh37/hg19 2p21(chr2:44527869-44605569)	SLC3A1, CAMKMT +1 more	Copy number loss	not specified	GUncertain significance
Select item 979357	GRCh37/hg19 2p21(chr2:44506991-44644257)x1	PREPL, SLC3A1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 685231	GRCh37/hg19 2p21(chr2:44546378-44590465)x1	CAMKMT, PREPL +1 more	Copy number loss	not provided	GUncertain significance
Select item 685070	GRCh37/hg19 2p21(chr2:44543435-44604017)x3	CAMKMT, PREPL +1 more	Copy number gain	not provided	GUncertain significance
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562542	GRCh37/hg19 2p21(chr2:44412415-44621042)x1	SLC3A1, PPM1B +2 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442534	GRCh37/hg19 2p21(chr2:43386188-45013725)x3	ABCG5, ABCG8 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	PKDCC, PLEKHH2 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 393873	GRCh37/hg19 2p21(chr2:44914980-45172628)x1	CAMKMT, SIX3	Copy number loss	See cases	GPathogenic

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Items: 57