FHAD1-AS1[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 149960	GRCh38/hg38 1p36.21(chr1:13400935-15356944)x1	FHAD1, FHAD1-AS1 +55 more	Copy number loss	See cases	GLikely pathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 2523223	NM_001391957.1(FHAD1):c.1531C>T (p.Arg511Trp)	FHAD1, FHAD1-AS1 (R511W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2620291	NM_001391957.1(FHAD1):c.1649C>T (p.Ser550Phe)	FHAD1, FHAD1-AS1 (S550F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2407724	NM_001391957.1(FHAD1):c.1660G>A (p.Glu554Lys)	FHAD1, FHAD1-AS1 (E554K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2364757	NM_001391957.1(FHAD1):c.1669G>A (p.Glu557Lys)	FHAD1, FHAD1-AS1 (E557K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2410346	NM_001391957.1(FHAD1):c.1691C>T (p.Thr564Met)	FHAD1, FHAD1-AS1 (T564M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2244445	NM_001391957.1(FHAD1):c.1807A>G (p.Lys603Glu)	FHAD1, FHAD1-AS1 (K603E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275828	NM_001391957.1(FHAD1):c.2034G>A (p.Arg678=)	FHAD1, FHAD1-AS1 (G655R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3278766	NM_001391957.1(FHAD1):c.2035G>A (p.Glu679Lys)	FHAD1, FHAD1-AS1 (E679K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569600	NM_001391957.1(FHAD1):c.2079G>A (p.Glu693=)	FHAD1, FHAD1-AS1 (A670T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3094873	NM_001391957.1(FHAD1):c.2118G>C (p.Thr706=)	FHAD1, FHAD1-AS1 (G683R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance

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Items: 26