KHDRBS2[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 148991	GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3	ADGRB3, ADGRB3-DT +105 more	Copy number gain	See cases	GPathogenic
Select item 147697	GRCh38/hg38 6p11.2-q11.1(chr6:57788605-62177316)x3	KHDRBS2, LINC00680 +16 more	Copy number gain	See cases	GBenign
Select item 145766	GRCh38/hg38 6p11.2-q11.1(chr6:57788605-61701905)x3	KHDRBS2, LINC00680 +16 more	Copy number gain	See cases	GBenign
Select item 155210	GRCh38/hg38 6q11.1(chr6:61468685-62203032)x3	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	GUncertain significance
Select item 155145	GRCh38/hg38 6q11.1(chr6:61468685-62190598)x3	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 155055	GRCh38/hg38 6q11.1(chr6:61468685-62203076)x3	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 154481	GRCh38/hg38 6q11.1(chr6:61468685-62167348)x3	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 152117	GRCh38/hg38 6q11.1(chr6:61468685-62190598)x4	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	GUncertain significance
Select item 151206	GRCh38/hg38 6q11.1(chr6:61468685-62203076)x4	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	GUncertain significance
Select item 150130	GRCh38/hg38 6q11.1(chr6:61468685-62217280)x3	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 144743	GRCh38/hg38 6q11.1-12(chr6:61468685-63437335)x1	FKBP1C, KHDRBS2 +14 more	Copy number loss	See cases	GUncertain significance
Select item 151609	GRCh38/hg38 6q11.1(chr6:61544320-61886581)x3	KHDRBS2, LOC121740654 +2 more	Copy number gain	See cases	GBenign
Select item 145263	GRCh38/hg38 6q11.1(chr6:61544320-61640953)x1	KHDRBS2, LOC121740654 +2 more	Copy number loss	See cases	GBenign
Select item 3114001	NM_152688.4(KHDRBS2):c.1006T>C (p.Ser336Pro)	KHDRBS2 (S336P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374868	NM_152688.4(KHDRBS2):c.941A>C (p.Tyr314Ser)	KHDRBS2 (Y314S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520348	NM_152688.4(KHDRBS2):c.938C>T (p.Ala313Val)	KHDRBS2 (A330V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387754	NM_152688.4(KHDRBS2):c.877G>A (p.Ala293Thr)	KHDRBS2 (A310T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616056	NM_152688.4(KHDRBS2):c.871A>T (p.Ser291Cys)	KHDRBS2 (S291C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250699	NM_152688.4(KHDRBS2):c.843T>A (p.Asp281Glu)	KHDRBS2 (D298E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146540	GRCh38/hg38 6q11.1(chr6:61821881-62167348)x1	KHDRBS2	Copy number loss	See cases	GUncertain significance
Select item 3114012	NM_152688.4(KHDRBS2):c.791A>G (p.His264Arg)	KHDRBS2 (H264R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396343	NM_152688.4(KHDRBS2):c.772G>A (p.Ala258Thr)	KHDRBS2 (A258T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349186	NM_152688.4(KHDRBS2):c.737G>A (p.Arg246Gln)	KHDRBS2 (R246Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404467	NM_152688.4(KHDRBS2):c.725T>C (p.Val242Ala)	KHDRBS2 (V242A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114011	NM_152688.4(KHDRBS2):c.689G>A (p.Arg230His)	KHDRBS2 (R230H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537618	NM_152688.4(KHDRBS2):c.670C>T (p.Arg224Trp)	KHDRBS2 (R224W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114010	NM_152688.4(KHDRBS2):c.665C>T (p.Thr222Ile)	KHDRBS2 (T222I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385637	NM_152688.4(KHDRBS2):c.644C>G (p.Pro215Arg)	KHDRBS2 (P215R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219443	NM_152688.4(KHDRBS2):c.643C>A (p.Pro215Thr)	KHDRBS2 (P215T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232980	NM_152688.4(KHDRBS2):c.628A>G (p.Ile210Val)	KHDRBS2 (I210V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604735	NM_152688.4(KHDRBS2):c.619G>A (p.Gly207Arg)	KHDRBS2 (G207R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114008	NM_152688.4(KHDRBS2):c.617G>A (p.Arg206His)	KHDRBS2 (R206H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114007	NM_152688.4(KHDRBS2):c.604C>T (p.Pro202Ser)	KHDRBS2 (P202S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114006	NM_152688.4(KHDRBS2):c.579A>T (p.Arg193Ser)	KHDRBS2 (R193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114005	NM_152688.4(KHDRBS2):c.557G>A (p.Arg186His)	KHDRBS2 (R186H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155684	GRCh38/hg38 6q11.1(chr6:61916628-62161152)x1	KHDRBS2	Copy number loss	See cases	GUncertain significance
Select item 2233160	NM_152688.4(KHDRBS2):c.475C>A (p.Leu159Met)	KHDRBS2 (L159M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319032	NM_152688.4(KHDRBS2):c.390G>C (p.Glu130Asp)	KHDRBS2 (E130D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522233	NM_152688.4(KHDRBS2):c.373G>A (p.Ala125Thr)	KHDRBS2 (A125T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114004	NM_152688.4(KHDRBS2):c.371A>G (p.Tyr124Cys)	KHDRBS2 (Y124C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155624	GRCh38/hg38 6q11.1(chr6:61979668-62246665)x1	KHDRBS2	Copy number loss	See cases	GLikely benign
Select item 2291063	NM_152688.4(KHDRBS2):c.217A>G (p.Lys73Glu)	KHDRBS2 (K73E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114003	NM_152688.4(KHDRBS2):c.132C>A (p.Asp44Glu)	KHDRBS2 (D44E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114002	NM_152688.4(KHDRBS2):c.109G>A (p.Gly37Ser)	KHDRBS2 (G37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 150487	GRCh38/hg38 6q11.1(chr6:62234756-62581081)x3	KHDRBS2, LOC129996670	Copy number gain	See cases	GLikely benign
Select item 2271977	NM_152688.4(KHDRBS2):c.34G>T (p.Ala12Ser)	KHDRBS2 (A12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685205	GRCh37/hg19 6q11.1-12(chr6:61886427-67715541)x1	EYS, KHDRBS2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 814817	GRCh37/hg19 6q11.1-12(chr6:62940652-64186737)x3	LGSN, KHDRBS2	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442826	GRCh37/hg19 6q11.1(chr6:61928251-62912937)x3	KHDRBS2	Copy number gain	See cases	GLikely benign
Select item 441829	GRCh37/hg19 6q11.1(chr6:61886427-62921561)x3	KHDRBS2	Copy number gain	See cases	GUncertain significance
Select item 394513	GRCh37/hg19 6q11.1(chr6:62386147-62889604)x3	KHDRBS2	Copy number gain	See cases	GBenign
Select item 394493	GRCh37/hg19 6q11.1(chr6:62396147-62889604)x3	KHDRBS2	Copy number gain	See cases	GBenign
Select item 202239	GRCh37/hg19 6p11.2-q11.1(chr6:57590853-62891976)x3	KHDRBS2	Copy number gain	See cases	GLikely benign

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Items: 58