9404[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 2459628	NM_002740.6(PRKCI):c.30G>A (p.Met10Ile)	LOC129937895, PRKCI (M10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212485	NM_002740.6(PRKCI):c.194T>G (p.Leu65Arg)	PRKCI (L65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045200	NM_002740.6(PRKCI):c.223+3G>A	PRKCI	Single nucleotide variant (intron variant)	PRKCI-related disorder	GLikely benign
Select item 2484221	NM_002740.6(PRKCI):c.266C>G (p.Ala89Gly)	PRKCI (A89G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243950	NM_002740.6(PRKCI):c.293A>G (p.Asp98Gly)	PRKCI (D98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493466	NM_002740.6(PRKCI):c.372C>G (p.Ile124Met)	PRKCI (I124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218788	NM_002740.6(PRKCI):c.416A>G (p.Asn139Ser)	PRKCI (N139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383653	NM_002740.6(PRKCI):c.563T>C (p.Ile188Thr)	PRKCI (I188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402482	NM_002740.6(PRKCI):c.656A>G (p.Tyr219Cys)	PRKCI (Y219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309997	NM_002740.6(PRKCI):c.709A>G (p.Met237Val)	PRKCI (M237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292494	NM_002740.6(PRKCI):c.728G>A (p.Gly243Asp)	PRKCI (G243D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218789	NM_002740.6(PRKCI):c.815G>A (p.Arg272Gln)	PRKCI (R272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033589	NM_002740.6(PRKCI):c.897A>C (p.Val299=)	PRKCI	Single nucleotide variant (synonymous variant)	PRKCI-related disorder	GLikely benign
Select item 3309998	NM_002740.6(PRKCI):c.1090C>G (p.Leu364Val)	PRKCI (L364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355127	NM_002740.6(PRKCI):c.1094C>G (p.Ala365Gly)	PRKCI (A365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496477	NM_002740.6(PRKCI):c.1099A>G (p.Asn367Asp)	PRKCI (N367D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049278	NM_002740.6(PRKCI):c.1292-5T>G	PRKCI	Single nucleotide variant (intron variant)	PRKCI-related disorder	GLikely benign
Select item 2283149	NM_002740.6(PRKCI):c.1327A>G (p.Met443Val)	PRKCI (M443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275091	NM_002740.6(PRKCI):c.1559C>T (p.Pro520Leu)	PRKCI (P520L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485139	NM_002740.6(PRKCI):c.1606G>A (p.Val536Ile)	PRKCI (V536I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387479	NM_002740.6(PRKCI):c.1615T>C (p.Phe539Leu)	PRKCI (F539L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309999	NM_002740.6(PRKCI):c.1701C>A (p.Asp567Glu)	PRKCI (D567E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1390486	NC_000003.11:g.(?_169482388)_(170130102_?)dup	ACTRT3, GPR160 +10 more	Duplication	Dyskeratosis congenita, autosomal dominant 1	GUncertain significance
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340075	GRCh37/hg19 3q26.2(chr3:169894343-169959222)x1	PHC3, PRKCI	Copy number loss	not provided	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 47