"Ambry Genetics"[submitter] AND "SNPH"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166992	NM_001318234.2(SNPH):c.284C>T (p.Thr95Met)	SNPH (T51M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321191	NM_001318234.2(SNPH):c.308C>T (p.Thr103Met)	SNPH (T59M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341088	NM_001318234.2(SNPH):c.316A>T (p.Ser106Cys)	SNPH (S62C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460371	NM_001318234.2(SNPH):c.426C>A (p.Asp142Glu)	SNPH (D142E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166993	NM_001318234.2(SNPH):c.580G>C (p.Asp194His)	SNPH (D150H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312911	NM_001318234.2(SNPH):c.607A>C (p.Lys203Gln)	SNPH (K203Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229441	NM_001318234.2(SNPH):c.610G>A (p.Asp204Asn)	SNPH (D204N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614497	NM_001318234.2(SNPH):c.844G>A (p.Glu282Lys)	SNPH (E282K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331273	NM_001318234.2(SNPH):c.880G>A (p.Asp294Asn)	SNPH (D294N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480738	NM_001318234.2(SNPH):c.923T>C (p.Leu308Pro)	SNPH (L308P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456789	NM_001318234.2(SNPH):c.1007C>A (p.Thr336Asn)	SNPH (T336N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239560	NM_001318234.2(SNPH):c.1057A>T (p.Met353Leu)	SNPH (M353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600194	NM_001318234.2(SNPH):c.1066C>T (p.Arg356Cys)	SNPH (R356C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310146	NM_001318234.2(SNPH):c.1175G>A (p.Cys392Tyr)	SNPH (C348Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460516	NM_001318234.2(SNPH):c.1291C>T (p.Arg431Trp)	SNPH (R387W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257980	NM_001318234.2(SNPH):c.1322C>T (p.Ser441Leu)	SNPH (S397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307691	NM_001318234.2(SNPH):c.1386G>C (p.Lys462Asn)	SNPH (K418N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315311	NM_001318234.2(SNPH):c.1448C>T (p.Thr483Met)	SNPH (T439M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321190	NM_001318234.2(SNPH):c.1466G>A (p.Arg489His)	SNPH (R489H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217164	NM_001318234.2(SNPH):c.1591C>A (p.Pro531Thr)	SNPH (P531T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592302	NM_001318234.2(SNPH):c.1600G>A (p.Gly534Ser)	SNPH (G490S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166991	NM_001318234.2(SNPH):c.1604G>A (p.Gly535Asp)	SNPH (G535D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22