9408[HGNC] - 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 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 2507898	NM_005813.6(PRKD3):c.2646T>A (p.Asn882Lys)	NDUFAF7, PRKD3 (N882K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3218841	NM_005813.6(PRKD3):c.2644A>C (p.Asn882His)	NDUFAF7, PRKD3 (N882H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310023	NM_005813.6(PRKD3):c.2617T>C (p.Tyr873His)	NDUFAF7, PRKD3 (Y873H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288926	NM_005813.6(PRKD3):c.2542A>G (p.Ile848Val)	NDUFAF7, PRKD3 (I848V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296060	NM_005813.6(PRKD3):c.2540G>A (p.Arg847His)	NDUFAF7, PRKD3 (R847H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319040	NM_005813.6(PRKD3):c.2500G>C (p.Asp834His)	NDUFAF7, PRKD3 (D834H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203813	NM_005813.6(PRKD3):c.2245C>T (p.Arg749Trp)	NDUFAF7, PRKD3 (R749W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218840	NM_005813.6(PRKD3):c.2173C>T (p.Arg725Cys)	NDUFAF7, PRKD3 (R725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524441	NM_005813.6(PRKD3):c.2021G>A (p.Arg674Gln)	NDUFAF7, PRKD3 (R674Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218839	NM_005813.6(PRKD3):c.1895A>T (p.His632Leu)	NDUFAF7, PRKD3 (H632L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310026	NM_005813.6(PRKD3):c.1650C>G (p.His550Gln)	PRKD3 (H550Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228907	NM_005813.6(PRKD3):c.1582C>T (p.Arg528Cys)	PRKD3 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307431	NM_005813.6(PRKD3):c.1532C>G (p.Ala511Gly)	PRKD3 (A511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543121	NM_005813.6(PRKD3):c.1489G>T (p.Val497Phe)	PRKD3 (V497F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310021	NM_005813.6(PRKD3):c.1453T>A (p.Cys485Ser)	PRKD3 (C485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282619	NM_005813.6(PRKD3):c.1445A>G (p.Asn482Ser)	PRKD3 (N482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401964	NM_005813.6(PRKD3):c.1402A>G (p.Ile468Val)	PRKD3 (I468V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309497	NM_005813.6(PRKD3):c.1279A>G (p.Thr427Ala)	PRKD3 (T427A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474454	NM_005813.6(PRKD3):c.1233G>C (p.Lys411Asn)	PRKD3 (K411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365635	NM_005813.6(PRKD3):c.1135G>A (p.Asp379Asn)	PRKD3 (D379N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361506	NM_005813.6(PRKD3):c.1037A>G (p.Asn346Ser)	PRKD3 (N346S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3218838	NM_005813.6(PRKD3):c.1019T>C (p.Ile340Thr)	PRKD3 (I340T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464188	NM_005813.6(PRKD3):c.983A>G (p.Asn328Ser)	PRKD3 (N328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220312	NM_005813.6(PRKD3):c.981C>G (p.Phe327Leu)	PRKD3 (F327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256176	NM_005813.6(PRKD3):c.889C>T (p.Arg297Cys)	PRKD3 (R297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310025	NM_005813.6(PRKD3):c.680C>T (p.Pro227Leu)	PRKD3 (P227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310022	NM_005813.6(PRKD3):c.632G>A (p.Arg211His)	PRKD3 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405274	NM_005813.6(PRKD3):c.614G>A (p.Ser205Asn)	PRKD3 (S205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316202	NM_005813.6(PRKD3):c.602C>T (p.Pro201Leu)	PRKD3 (P201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218843	NM_005813.6(PRKD3):c.496A>G (p.Thr166Ala)	PRKD3 (T166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570132	NM_005813.6(PRKD3):c.298T>G (p.Cys100Gly)	PRKD3 (C100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512703	NM_005813.6(PRKD3):c.224T>C (p.Ile75Thr)	PRKD3 (I75T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409969	NM_005813.6(PRKD3):c.181T>A (p.Ser61Thr)	PRKD3 (S61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614881	NM_005813.6(PRKD3):c.127G>A (p.Gly43Arg)	PRKD3 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218842	NM_005813.6(PRKD3):c.46C>A (p.Pro16Thr)	PRKD3 (P16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613378	NM_005813.6(PRKD3):c.45A>T (p.Leu15Phe)	PRKD3 (L15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
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 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979973	GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3	CRIM1, SULT6B1 +12 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 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
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 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 57