ClinVar for Gene (Select 27339) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2618154	NM_014502.5(PRPF19):c.319C>A (p.Leu107Met)	PRPF19 (L107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609768	NM_014502.5(PRPF19):c.1381A>T (p.Ile461Phe)	PRPF19 (I461F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536769	NM_014502.5(PRPF19):c.617A>G (p.Lys206Arg)	PRPF19 (K206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533571	NM_014502.5(PRPF19):c.832C>G (p.Leu278Val)	PRPF19 (L278V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529668	NM_014502.5(PRPF19):c.1484T>C (p.Met495Thr)	PRPF19 (M495T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477785	NM_014502.5(PRPF19):c.157A>G (p.Ile53Val)	PRPF19 (I53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2356365	NM_014502.5(PRPF19):c.707A>G (p.Lys236Arg)	PRPF19 (K236R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259958	NM_014502.5(PRPF19):c.919A>G (p.Ser307Gly)	PRPF19 (S307G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206241	NM_014502.5(PRPF19):c.1048G>A (p.Gly350Ser)	PRPF19 (G350S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1252079	NM_014502.5(PRPF19):c.794A>G (p.Lys265Arg)	PRPF19 (K265R)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 1213770	NM_014502.5(PRPF19):c.1495C>T (p.Leu499Phe)	PRPF19 (L499F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 23