"Illumina Laboratory Services, Illumina"[submitter] AND "PAFAH1B1"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322244	NM_000430.4(PAFAH1B1):c.-534_-529dup	PAFAH1B1	Duplication (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GBenign
Select item 322248	NM_000430.4(PAFAH1B1):c.-440_-438del	LOC130059964, PAFAH1B1	Deletion (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322249	NM_000430.4(PAFAH1B1):c.-331GGGCCC[3]	LOC130059964, PAFAH1B1	Microsatellite (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322257	NM_000430.4(PAFAH1B1):c.-176del	PAFAH1B1	Deletion (5 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 2573003	NM_000430.4(PAFAH1B1):c.569G>T (p.Gly190Val)	PAFAH1B1 (G190V)	Single nucleotide variant (missense variant)	PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia	GLikely pathogenic
Select item 322263	NM_000430.4(PAFAH1B1):c.900+11dup	PAFAH1B1	Duplication (intron variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322269	NM_000430.4(PAFAH1B1):c.*532G>A	PAFAH1B1	Single nucleotide variant (3 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322277	NM_000430.4(PAFAH1B1):c.1042_1043del	PAFAH1B1	Deletion (3 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia +1 more	GConflicting classifications of pathogenicity
Select item 322279	NM_000430.4(PAFAH1B1):c.*1056C>T	PAFAH1B1	Single nucleotide variant (3 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322287	NM_000430.4(PAFAH1B1):c.*1519AG[2]	PAFAH1B1	Microsatellite (3 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322296	NM_000430.4(PAFAH1B1):c.1934_1935del	PAFAH1B1	Deletion (3 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GLikely benign
Select item 322324	NM_000430.4(PAFAH1B1):c.*3331dup	PAFAH1B1	Duplication (3 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 322332	NM_000430.4(PAFAH1B1):c.3627_3628del	PAFAH1B1	Deletion (3 prime UTR variant)	Lissencephaly/Subcortical Band Heterotopia	GUncertain significance
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 1180511	GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	ASPA, CLUH +25 more	Copy number loss	not provided	GPathogenic