PCNT[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 3602

<< First< Prev

Page of 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042562	NM_006031.6(PCNT):c.-6A>T	PCNT	Single nucleotide variant (5 prime UTR variant)	PCNT-related disorder	GLikely benign
Select item 3210381	NM_006031.6(PCNT):c.7G>A (p.Val3Ile)	PCNT (V3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330623	NM_006031.6(PCNT):c.7G>C (p.Val3Leu)	PCNT (V3L)	Single nucleotide variant (missense variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely benign
Select item 436252	NM_006031.6(PCNT):c.16G>C (p.Glu6Gln)	PCNT (E6Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2802826	NM_006031.6(PCNT):c.21G>A (p.Gln7=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842161	NM_006031.6(PCNT):c.25_34del (p.Arg9fs)	PCNT (R9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3012548	NM_006031.6(PCNT):c.24G>A (p.Arg8=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 282936	NM_006031.6(PCNT):c.24G>C (p.Arg8=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2974053	NM_006031.6(PCNT):c.27C>T (p.Arg9=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3061468	NM_006031.6(PCNT):c.29G>C (p.Arg10Thr)	PCNT (R10T)	Single nucleotide variant (missense variant)	PCNT-related disorder	GUncertain significance
Select item 2955736	NM_006031.6(PCNT):c.33G>A (p.Lys11=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713023	NM_006031.6(PCNT):c.36G>A (p.Val12=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880569	NM_006031.6(PCNT):c.45G>A (p.Gly15=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836290	NM_006031.6(PCNT):c.45G>C (p.Gly15=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859900	NM_006031.6(PCNT):c.46A>C (p.Arg16=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629998	NM_006031.6(PCNT):c.48G>A (p.Arg16=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517931	NM_006031.6(PCNT):c.49A>G (p.Thr17Ala)	PCNT (T17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2729938	NM_006031.6(PCNT):c.51G>C (p.Thr17=)	PCNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634215	NM_006031.6(PCNT):c.54G>A (p.Lys18=)	PCNT	Single nucleotide variant (synonymous variant)	PCNT-related disorder	GUncertain significance
Select item 138618	NM_006031.6(PCNT):c.54+6C>T	PCNT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2836081	NM_006031.6(PCNT):c.54+8_54+10del	PCNT	Deletion (intron variant)	not provided	GLikely benign
Select item 1598158	NM_006031.6(PCNT):c.54+9T>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962712	NM_006031.6(PCNT):c.54+12G>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973095	NM_006031.6(PCNT):c.54+13G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641689	NM_006031.6(PCNT):c.54+14G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001656	NM_006031.6(PCNT):c.54+20T>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698399	NM_006031.6(PCNT):c.54+20T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214065	NM_006031.6(PCNT):c.54+141C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211515	NM_006031.6(PCNT):c.54+161C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009931	NM_006031.6(PCNT):c.174_180dup (p.Ser61fs)	PCNT (S61fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3357007	NM_006031.6(PCNT):c.180_198del (p.Asp60fs)	PCNT (D60fs)	Deletion (5 prime UTR variant +1 more)	PCNT-related disorder	GLikely pathogenic
Select item 211845	NM_006031.6(PCNT):c.175G>A (p.Glu59Lys)	PCNT (E59K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2955612	NM_006031.6(PCNT):c.177G>A (p.Glu59=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2904899	NM_006031.6(PCNT):c.183C>T (p.Ser61=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2804534	NM_006031.6(PCNT):c.189C>T (p.Leu63=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2710920	NM_006031.6(PCNT):c.189C>G (p.Leu63=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 127247	NM_006031.6(PCNT):c.196G>T (p.Gly66Ter)	PCNT (G66*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 517802	NM_006031.6(PCNT):c.202G>C (p.Asp68His)	PCNT (D68H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2752697	NM_006031.6(PCNT):c.204C>T (p.Asp68=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1715333	NM_006031.6(PCNT):c.207T>G (p.Ile69Met)	PCNT (I69M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3357730	NM_006031.6(PCNT):c.209G>T (p.Cys70Phe)	PCNT (C70F)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 3346482	NM_006031.6(PCNT):c.210C>G (p.Cys70Trp)	PCNT (C70W)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 2988769	NM_006031.6(PCNT):c.219A>G (p.Thr73=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2900024	NM_006031.6(PCNT):c.219A>T (p.Thr73=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2190893	NM_006031.6(PCNT):c.222A>G (p.Ser74=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3029446	NM_006031.6(PCNT):c.228C>T (p.Asp76=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GLikely benign
Select item 2868571	NM_006031.6(PCNT):c.231C>T (p.Asp77=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2853223	NM_006031.6(PCNT):c.234C>T (p.Thr78=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1924883	NM_006031.6(PCNT):c.234C>A (p.Thr78=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1337387	NM_006031.6(PCNT):c.236C>T (p.Pro79Leu)	PCNT (P79L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2839538	NM_006031.6(PCNT):c.237del (p.Asp80fs)	PCNT (D80fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3357627	NM_006031.6(PCNT):c.238G>A (p.Asp80Asn)	PCNT (D80N)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 159570	NM_006031.6(PCNT):c.244G>A (p.Ala82Thr)	PCNT (A82T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2885240	NM_006031.6(PCNT):c.246A>G (p.Ala82=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 282263	NM_006031.6(PCNT):c.247G>C (p.Gly83Arg)	PCNT (G83R)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder +1 more	GUncertain significance
Select item 2834541	NM_006031.6(PCNT):c.252G>C (p.Gly84=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2770968	NM_006031.6(PCNT):c.252G>A (p.Gly84=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3347264	NM_006031.6(PCNT):c.255C>T (p.Ala85=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GLikely benign
Select item 2876388	NM_006031.6(PCNT):c.255C>A (p.Ala85=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 895264	NM_006031.6(PCNT):c.262G>A (p.Ala88Thr)	PCNT (A88T)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephalic osteodysplastic primordial dwarfism type II +1 more	GUncertain significance
Select item 2252164	NM_006031.6(PCNT):c.266A>G (p.Gln89Arg)	PCNT (Q89R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 895265	NM_006031.6(PCNT):c.267+3A>G	PCNT	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic primordial dwarfism type II	GUncertain significance
Select item 2859762	NM_006031.6(PCNT):c.267+8dup	PCNT	Duplication (intron variant)	not provided	GLikely benign
Select item 2016584	NM_006031.6(PCNT):c.267+13A>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005139	NM_006031.6(PCNT):c.267+14A>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795731	NM_006031.6(PCNT):c.267+17T>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858652	NM_006031.6(PCNT):c.267+18T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677635	NM_006031.6(PCNT):c.267+163G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189172	NM_006031.6(PCNT):c.268-330T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205511	NM_006031.6(PCNT):c.268-323G>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181676	NM_006031.6(PCNT):c.268-193C>A	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847659	NM_006031.6(PCNT):c.268-19C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748485	NM_006031.6(PCNT):c.268-17G>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818109	NM_006031.6(PCNT):c.268-13del	PCNT	Deletion (intron variant)	not provided	GLikely benign
Select item 2796498	NM_006031.6(PCNT):c.268-14C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838370	NM_006031.6(PCNT):c.268-13C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792310	NM_006031.6(PCNT):c.268-9C>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917744	NM_006031.6(PCNT):c.268-8C>G	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1337310	NM_006031.6(PCNT):c.268-5_268-3del	PCNT	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2988720	NM_006031.6(PCNT):c.268-5C>T	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 709618	NM_006031.6(PCNT):c.268-4T>C	PCNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781159	NM_006031.6(PCNT):c.288G>A (p.Glu96=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2085459	NM_006031.6(PCNT):c.298G>A (p.Asp100Asn)	PCNT (D100N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1459821	NM_006031.6(PCNT):c.307C>T (p.Gln103Ter)	PCNT (Q103*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2990359	NM_006031.6(PCNT):c.315G>A (p.Gln105=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3350487	NM_006031.6(PCNT):c.317A>G (p.Gln106Arg)	PCNT (Q106R)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 211852	NM_006031.6(PCNT):c.321G>T (p.Lys107Asn)	PCNT (K107N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 3352530	NM_006031.6(PCNT):c.333C>T (p.Asp111=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GLikely benign
Select item 3348527	NM_006031.6(PCNT):c.335A>T (p.His112Leu)	PCNT (H112L)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 1935455	NM_006031.6(PCNT):c.335A>G (p.His112Arg)	PCNT (H112R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 159586	NM_006031.6(PCNT):c.336T>C (p.His112=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159587	NM_006031.6(PCNT):c.339T>A (p.Pro113=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3348265	NM_006031.6(PCNT):c.340C>G (p.Pro114Ala)	PCNT (P114A)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 3345277	NM_006031.6(PCNT):c.344A>G (p.Glu115Gly)	PCNT (E115G)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 2961504	NM_006031.6(PCNT):c.345G>A (p.Glu115=)	PCNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2634091	NM_006031.6(PCNT):c.349T>C (p.Cys117Arg)	PCNT (C117R)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance
Select item 2168802	NM_006031.6(PCNT):c.350G>C (p.Cys117Ser)	PCNT (C117S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1497647	NM_006031.6(PCNT):c.406_483del (p.Gly136_Val161del)	PCNT	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3352161	NM_006031.6(PCNT):c.367_405del (p.Ser123_Val135del)	PCNT	Deletion (inframe_deletion +1 more)	PCNT-related disorder	GUncertain significance
Select item 2633581	NM_006031.6(PCNT):c.353G>A (p.Gly118Glu)	PCNT (G118E)	Single nucleotide variant (5 prime UTR variant +1 more)	PCNT-related disorder	GUncertain significance

<< First< Prev

Page of 37