"GeneDx"[submitter] AND "MYBPHL"[gene] - ClinVar

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Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 1268365	NM_001010985.3(MYBPHL):c.*33+36C>G	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245843	NM_001010985.3(MYBPHL):c.*26T>C	MYBPHL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222087	NM_001010985.3(MYBPHL):c.*19G>C	MYBPHL	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287601	NM_001010985.3(MYBPHL):c.1054+182T>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276114	NM_001010985.3(MYBPHL):c.1054+25C>T	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264859	NM_001010985.3(MYBPHL):c.868-197G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282714	NM_001010985.3(MYBPHL):c.867+23A>G	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253160	NM_001010985.3(MYBPHL):c.805G>A (p.Asp269Asn)	MYBPHL (D246N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1238412	NM_001010985.3(MYBPHL):c.731-86dup	MYBPHL	Duplication (intron variant)	not provided	GBenign
Select item 1268940	NM_001010985.3(MYBPHL):c.731-72del	MYBPHL	Deletion (intron variant)	not provided	GBenign
Select item 1180903	NM_001010985.3(MYBPHL):c.730+13T>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289852	NM_001010985.3(MYBPHL):c.730+5G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265643	NM_001010985.3(MYBPHL):c.702T>C (p.Thr234=)	MYBPHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1245740	NM_001010985.3(MYBPHL):c.504G>T (p.Pro168=)	MYBPHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288413	NM_001010985.3(MYBPHL):c.431-85G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244358	NM_001010985.3(MYBPHL):c.430+90C>G	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294853	NM_001010985.3(MYBPHL):c.234+162C>T	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285910	NM_001010985.3(MYBPHL):c.234+74G>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230430	NM_001010985.3(MYBPHL):c.146-39G>A	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287525	NM_001010985.3(MYBPHL):c.146-192C>T	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220998	NM_001010985.3(MYBPHL):c.145+215T>C	MYBPHL	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 23