LOC101927793[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
Select item 2317767	NM_005187.6(CBFA2T3):c.1108C>T (p.Arg370Trp)	CBFA2T3, LOC101927793 (R284W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137939	NM_005187.6(CBFA2T3):c.1097G>A (p.Arg366Gln)	CBFA2T3, LOC101927793 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511359	NM_005187.6(CBFA2T3):c.1087C>T (p.Arg363Trp)	CBFA2T3, LOC101927793 (R363W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263606	NM_005187.6(CBFA2T3):c.1075C>T (p.His359Tyr)	CBFA2T3, LOC101927793 (H359Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594447	NM_005187.6(CBFA2T3):c.1073G>A (p.Arg358His)	CBFA2T3, LOC101927793 (R358H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247994	NM_005187.6(CBFA2T3):c.1056C>A (p.His352Gln)	CBFA2T3, LOC101927793 (H266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137938	NM_005187.6(CBFA2T3):c.1019C>T (p.Pro340Leu)	CBFA2T3, LOC101927793 (P254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137937	NM_005187.6(CBFA2T3):c.1013C>T (p.Pro338Leu)	CBFA2T3, LOC101927793 (P338L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647016	NM_005187.6(CBFA2T3):c.977G>A (p.Arg326His)	CBFA2T3, LOC101927793 (R240H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647017	NM_005187.6(CBFA2T3):c.951G>A (p.Arg317=)	CBFA2T3, LOC101927793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243488	NM_005187.6(CBFA2T3):c.946A>C (p.Lys316Gln)	CBFA2T3, LOC101927793 (K230Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137954	NM_005187.6(CBFA2T3):c.923C>T (p.Pro308Leu)	CBFA2T3, LOC101927793 (P222L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137953	NM_005187.6(CBFA2T3):c.884C>T (p.Thr295Met)	CBFA2T3, LOC101927793 (T209M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2588752	NM_005187.6(CBFA2T3):c.871G>A (p.Gly291Ser)	CBFA2T3, LOC101927793 (G205S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 42