KANSL1L[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	KANSL1L, KANSL1L-AS1 +96 more	Copy number loss	See cases	GPathogenic
Select item 2321575	NM_152519.4(KANSL1L):c.2924C>A (p.Thr975Asn)	KANSL1L (T933N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 717268	NM_152519.4(KANSL1L):c.2903A>G (p.Asp968Gly)	KANSL1L (D926G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2214945	NM_152519.4(KANSL1L):c.2900C>T (p.Ser967Leu)	KANSL1L (S925L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308587	NM_152519.4(KANSL1L):c.2850A>C (p.Glu950Asp)	KANSL1L (E908D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462226	NM_152519.4(KANSL1L):c.2776G>A (p.Asp926Asn)	KANSL1L (D884N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210079	NM_152519.4(KANSL1L):c.2461C>G (p.Leu821Val)	KANSL1L (L779V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242761	NM_152519.4(KANSL1L):c.2405T>C (p.Met802Thr)	KANSL1L (M760T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408043	NM_152519.4(KANSL1L):c.2381A>C (p.Glu794Ala)	KANSL1L (E752A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324538	NM_152519.4(KANSL1L):c.2360T>C (p.Leu787Ser)	KANSL1L (L787S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511463	NM_152519.4(KANSL1L):c.2345T>C (p.Val782Ala)	KANSL1L (V740A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552728	NM_152519.4(KANSL1L):c.2219T>C (p.Phe740Ser)	KANSL1L (F698S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277372	NM_152519.4(KANSL1L):c.2119G>A (p.Gly707Arg)	KANSL1L-AS1, KANSL1L (G707R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513892	NM_152519.4(KANSL1L):c.2050T>C (p.Trp684Arg)	KANSL1L, KANSL1L-AS1 (W684R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 735231	NM_152519.4(KANSL1L):c.2040T>C (p.Thr680=)	KANSL1L, KANSL1L-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550007	NM_152519.4(KANSL1L):c.2030T>C (p.Val677Ala)	KANSL1L, KANSL1L-AS1 (V677A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547551	NM_152519.4(KANSL1L):c.1830T>A (p.Ser610Arg)	KANSL1L, KANSL1L-AS1 (S610R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310028	NM_152519.4(KANSL1L):c.1799T>A (p.Met600Lys)	KANSL1L-AS1, KANSL1L (M600K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356353	NM_152519.4(KANSL1L):c.1668G>A (p.Met556Ile)	KANSL1L (M556I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367871	NM_152519.4(KANSL1L):c.1655C>G (p.Ser552Cys)	KANSL1L (S552C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251013	NM_152519.4(KANSL1L):c.1336G>T (p.Val446Phe)	KANSL1L (V446F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720831	NM_152519.4(KANSL1L):c.1290A>G (p.Gln430=)	KANSL1L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2542949	NM_152519.4(KANSL1L):c.1287G>T (p.Met429Ile)	KANSL1L (M429I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2620049	NM_152519.4(KANSL1L):c.1223C>T (p.Ala408Val)	KANSL1L (A408V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611755	NM_152519.4(KANSL1L):c.1130G>A (p.Arg377Gln)	KANSL1L (R377Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481877	NM_152519.4(KANSL1L):c.1096A>G (p.Ser366Gly)	KANSL1L (S366G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619463	NM_152519.4(KANSL1L):c.996G>C (p.Leu332Phe)	KANSL1L (L332F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541142	NM_152519.4(KANSL1L):c.799C>T (p.His267Tyr)	KANSL1L (H267Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232129	NM_152519.4(KANSL1L):c.665C>T (p.Ala222Val)	KANSL1L (A222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651859	NM_152519.4(KANSL1L):c.605C>T (p.Pro202Leu)	KANSL1L (P202L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2283942	NM_152519.4(KANSL1L):c.490G>C (p.Asp164His)	KANSL1L (D164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326931	NM_152519.4(KANSL1L):c.425C>T (p.Thr142Met)	KANSL1L (T142M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237541	NM_152519.4(KANSL1L):c.317G>A (p.Cys106Tyr)	KANSL1L (C106Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494393	NM_152519.4(KANSL1L):c.295A>C (p.Lys99Gln)	KANSL1L (K99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292656	NM_152519.4(KANSL1L):c.252A>T (p.Arg84Ser)	KANSL1L (R84S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2253483	NM_152519.4(KANSL1L):c.187G>A (p.Val63Met)	KANSL1L (V63M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 152244	GRCh38/hg38 2q34(chr2:210165293-211245653)x3	ACADL, CPS1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2427041	NC_000002.11:g.(?_210636797)_(213403254_?)del	ACADL, ERBB4 +6 more	Deletion	not provided	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 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ADAM23, CPO +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688684	GRCh37/hg19 2q34(chr2:210938610-211132415)x3	ACADL, KANSL1L	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 599304	Single allele	ACADL, CPS1 +6 more	Deletion	Trichorhinophalangeal dysplasia type I	GUncertain significance
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 443584	GRCh37/hg19 2q34(chr2:210983281-211744945)x3	ACADL, CPS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 64