"Natera, Inc."[submitter] AND "CHM"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1165534	NM_000390.4(CHM):c.1929A>C (p.Thr643=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 794377	NM_000390.4(CHM):c.1920G>A (p.Lys640=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 951473	NM_000390.4(CHM):c.1893A>G (p.Ile631Met)	CHM (I483M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698222	NM_000390.4(CHM):c.1802A>G (p.Asn601Ser)	CHM (N601S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 796445	NM_000390.4(CHM):c.1782T>C (p.Leu594=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1011961	NM_000390.4(CHM):c.1771-4C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 767506	NM_000390.4(CHM):c.1713C>T (p.Asn571=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 947713	NM_000390.4(CHM):c.1664G>C (p.Arg555Thr)	CHM (R555T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 964541	NM_000390.4(CHM):c.1648C>G (p.Leu550Val)	CHM (L550V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702773	NM_000390.4(CHM):c.1641G>T (p.Leu547=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1165868	NM_000390.4(CHM):c.1620A>G (p.Gln540=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1059760	NM_000390.4(CHM):c.1574A>G (p.Gln525Arg)	CHM (Q377R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811585	NM_000390.4(CHM):c.1511-6del	CHM	Deletion (intron variant)	Choroideremia +1 more	GBenign
Select item 707222	NM_000390.4(CHM):c.1380T>C (p.Asp460=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 702406	NM_000390.4(CHM):c.1349+10C>T	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1034490	NM_000390.4(CHM):c.1275G>C (p.Gln425His)	CHM (Q277H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707550	NM_000390.4(CHM):c.1255A>G (p.Ile419Val)	CHM (I271V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 707306	NM_000390.4(CHM):c.1245-8_1245-6del	CHM	Microsatellite (intron variant)	not provided	GBenign
Select item 290398	NM_000390.4(CHM):c.1244+8T>A	CHM	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 852711	NM_000390.4(CHM):c.1217G>A (p.Cys406Tyr)	CHM (C406Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704633	NM_000390.4(CHM):c.1008T>C (p.Ile336=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 848323	NM_000390.4(CHM):c.962A>G (p.Tyr321Cys)	CHM (Y321C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198724	NM_000390.4(CHM):c.957A>G (p.Thr319=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 844970	NM_000390.4(CHM):c.926C>T (p.Pro309Leu)	CHM (P309L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702038	NM_000390.4(CHM):c.825G>A (p.Pro275=)	CHM	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 143078	NM_000390.4(CHM):c.808C>T (p.Arg270Ter)	CHM (R270* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 285756	NM_000390.4(CHM):c.715C>T (p.Arg239Ter)	CHM (R239* +1 more)	Single nucleotide variant (nonsense)	Choroideremia +1 more	GPathogenic
Select item 796016	NM_000390.4(CHM):c.619A>G (p.Thr207Ala)	CHM (T59A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 764374	NM_000390.4(CHM):c.591T>C (p.Ser197=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787552	NM_000390.4(CHM):c.582A>G (p.Glu194=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 989635	NM_000390.4(CHM):c.502G>C (p.Glu168Gln)	CHM (E168Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989636	NM_000390.4(CHM):c.498G>A (p.Ala166=)	CHM	Single nucleotide variant (synonymous variant)	CHM-related disorder +1 more	GLikely benign
Select item 1158381	NM_000390.4(CHM):c.484G>A (p.Asp162Asn)	CHM, LOC129391306 (D14N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1168390	NM_000390.4(CHM):c.447G>T (p.Met149Ile)	CHM, LOC129391306 (M149I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1038440	NM_000390.4(CHM):c.368C>T (p.Ala123Val)	CHM, LOC129391306 (A123V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 967667	NM_000390.4(CHM):c.352C>G (p.Leu118Val)	CHM, LOC129391306 (L118V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 255991	NM_000390.4(CHM):c.351A>G (p.Ala117=)	CHM, LOC129391306	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1246353	NM_000390.4(CHM):c.315-1541C>A	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278103	NM_000390.4(CHM):c.315-1543T>C	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377662	NM_000390.4(CHM):c.265A>T (p.Ser89Cys)	CHM (S89C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 698157	NM_000390.4(CHM):c.238C>T (p.Leu80Phe)	CHM (L80F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1165869	NM_000390.4(CHM):c.205G>C (p.Val69Leu)	CHM (V69L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1039645	NM_000390.4(CHM):c.182A>C (p.Glu61Ala)	CHM (E61A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 966266	NM_000390.4(CHM):c.127T>C (p.Tyr43His)	CHM (Y43H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 989637	NM_000390.4(CHM):c.29A>G (p.Asp10Gly)	CHM (D10G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 989638	NM_000390.4(CHM):c.10A>G (p.Thr4Ala)	CHM (T4A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 704772	NM_000390.4(CHM):c.8A>G (p.Asp3Gly)	CHM (D3G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 763372	NM_000390.4(CHM):c.6G>T (p.Ala2=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967914	NM_000390.4(CHM):c.5C>T (p.Ala2Val)	CHM (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 49