KBTBD2[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	LOC110120652, LOC123956128 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 2369735	NM_015483.3(KBTBD2):c.1798A>G (p.Thr600Ala)	KBTBD2 (T600A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402729	NM_015483.3(KBTBD2):c.1679G>A (p.Arg560Gln)	KBTBD2 (R560Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551175	NM_015483.3(KBTBD2):c.1671A>C (p.Glu557Asp)	KBTBD2 (E557D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615685	NM_015483.3(KBTBD2):c.1670A>G (p.Glu557Gly)	KBTBD2 (E557G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403828	NM_015483.3(KBTBD2):c.1573G>A (p.Val525Ile)	KBTBD2 (V525I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391866	NM_015483.3(KBTBD2):c.1568C>T (p.Pro523Leu)	KBTBD2 (P523L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297796	NM_015483.3(KBTBD2):c.1543A>G (p.Ile515Val)	KBTBD2 (I515V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302994	NM_015483.3(KBTBD2):c.1541A>G (p.Asn514Ser)	KBTBD2 (N514S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340732	NM_015483.3(KBTBD2):c.1234G>A (p.Val412Ile)	KBTBD2 (V412I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488044	NM_015483.3(KBTBD2):c.1213G>C (p.Glu405Gln)	KBTBD2 (E405Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393520	NM_015483.3(KBTBD2):c.1022A>C (p.Gln341Pro)	KBTBD2 (Q341P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615310	NM_015483.3(KBTBD2):c.1006A>G (p.Lys336Glu)	KBTBD2 (K336E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479870	NM_015483.3(KBTBD2):c.878A>G (p.Glu293Gly)	KBTBD2 (E293G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299301	NM_015483.3(KBTBD2):c.719A>G (p.Asn240Ser)	KBTBD2 (N240S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481039	NM_015483.3(KBTBD2):c.536A>T (p.Asp179Val)	KBTBD2 (D179V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216102	NM_015483.3(KBTBD2):c.453T>G (p.Ser151Arg)	KBTBD2 (S151R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302753	NM_015483.3(KBTBD2):c.320C>T (p.Thr107Ile)	KBTBD2 (T107I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 39