P Fraser - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8845	NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)	PSEN2 (N141I)	Single nucleotide variant (missense variant)	Alzheimer disease 4 +1 more	GPathogenic
Select item 8846	NM_000447.3(PSEN2):c.715A>G (p.Met239Val)	PSEN2 (M239V)	Single nucleotide variant (missense variant)	Alzheimer disease 4	GPathogenic
Select item 349658	NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu)	FRAS1 (P132L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2521685	NM_025074.7(FRAS1):c.586C>T (p.Pro196Ser)	FRAS1 (P196S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096676	NM_025074.7(FRAS1):c.1321C>G (p.Pro441Ala)	FRAS1 (P441A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 591038	NM_025074.7(FRAS1):c.1867T>C (p.Cys623Arg)	FRAS1 (C623R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337801	NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr)	FRAS1 (P628T)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 3096681	NM_025074.7(FRAS1):c.1885C>T (p.Pro629Ser)	FRAS1 (P629S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 429257	NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu)	FRAS1 (P676L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2252344	NM_025074.7(FRAS1):c.3971C>T (p.Pro1324Leu)	FRAS1 (P1324L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474868	NM_025074.7(FRAS1):c.4037T>C (p.Leu1346Pro)	FRAS1 (L1346P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027394	NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter)	FRAS1 (W1420*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2542861	NM_025074.7(FRAS1):c.4531C>A (p.Pro1511Thr)	FRAS1 (P1511T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1979692	NM_025074.7(FRAS1):c.4685C>A (p.Pro1562Gln)	FRAS1 (P1562Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2620263	NM_025074.7(FRAS1):c.5777C>T (p.Pro1926Leu)	FRAS1 (P1926L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255629	NM_025074.7(FRAS1):c.5875C>T (p.Pro1959Ser)	FRAS1 (P1959S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1401258	NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu)	FRAS1 (P2001L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 916663	NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)	FRAS1 (G2004S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GPathogenic/Likely pathogenic
Select item 3096705	NM_025074.7(FRAS1):c.6364C>G (p.Pro2122Ala)	FRAS1 (P2122A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027395	NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)	FRAS1 (R2145*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GConflicting classifications of pathogenicity
Select item 2510458	NM_025074.7(FRAS1):c.7273C>T (p.Pro2425Ser)	FRAS1 (P2425S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923505	NM_025074.7(FRAS1):c.7301C>T (p.Pro2434Leu)	FRAS1 (P2434L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 235484	NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)	FRAS1 (Y2517*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic
Select item 988193	NM_025074.7(FRAS1):c.7832A>G (p.Tyr2611Cys)	FRAS1 (Y2611C)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 3096719	NM_025074.7(FRAS1):c.8065G>C (p.Ala2689Pro)	FRAS1 (A2689P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 916658	NM_025074.7(FRAS1):c.8604+5G>A	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3096725	NM_025074.7(FRAS1):c.9163G>C (p.Ala3055Pro)	FRAS1 (A3055P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198334	NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg)	FRAS1 (G3185R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2557109	NM_025074.7(FRAS1):c.10238C>T (p.Pro3413Leu)	FRAS1 (P3413L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279745	NM_025074.7(FRAS1):c.10268C>T (p.Pro3423Leu)	FRAS1 (P3423L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488194	NM_025074.7(FRAS1):c.10705C>T (p.Pro3569Ser)	FRAS1 (P3569S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555148	NM_025074.7(FRAS1):c.10861C>T (p.Pro3621Ser)	FRAS1 (P3621S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2065014	NM_025074.7(FRAS1):c.10909G>C (p.Ala3637Pro)	FRAS1 (A3637P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2283335	NM_025074.7(FRAS1):c.11036C>T (p.Pro3679Leu)	FRAS1, LOC126807089 (P3679L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096675	NM_025074.7(FRAS1):c.11839C>G (p.Pro3947Ala)	FRAS1 (P3947A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256142	NM_025074.7(FRAS1):c.11876C>A (p.Pro3959Gln)	FRAS1 (P3959Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 48107	NM_000503.6(EYA1):c.1755T>C (p.His585=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign
Select item 48105	NM_000503.6(EYA1):c.1699-3C>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +4 more	GBenign
Select item 7943	NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	EYA1 (R361* +3 more)	Single nucleotide variant (nonsense +1 more)	Branchiootorenal syndrome 1 +4 more	GPathogenic
Select item 567492	NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)	EYA1 (Q228* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome +1 more	GPathogenic
Select item 459254	NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)	EYA1 (R77* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 242914	NM_000503.6(EYA1):c.121G>C (p.Glu41Gln)	EYA1 (E41Q +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1805701	NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)	FREM2 (A159T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1393442	NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala)	FREM2 (P398A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 881063	NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro)	FREM2 (T1521P)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GUncertain significance
Select item 698110	NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)	FREM2 (S1654R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311999	NM_207361.6(FREM2):c.5789C>T (p.Pro1930Leu)	FREM2 (P1930L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 499707	NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro)	FREM2 (L2969P)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GUncertain significance

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Items: 53