ClinVar for Gene (Select 4880) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201746	NM_024409.4(NPPC):c.287G>C (p.Arg96Pro)	NPPC (R96P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201745	NM_024409.4(NPPC):c.236C>T (p.Thr79Ile)	NPPC (T79I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2996032	NM_024409.4(NPPC):c.172G>T (p.Gly58Trp)	NPPC (G58W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979257	NM_024409.4(NPPC):c.90+14del	NPPC	Deletion (intron variant)	not provided	GLikely benign
Select item 2977522	NM_024409.4(NPPC):c.176G>T (p.Gly59Val)	NPPC (G59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974380	NM_024409.4(NPPC):c.90+12_90+14del	NPPC	Deletion (intron variant)	not provided	GLikely benign
Select item 2920423	NM_024409.4(NPPC):c.150G>C (p.Gln50His)	NPPC (Q50H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917978	NM_024409.4(NPPC):c.151AAG[1] (p.Lys52del)	NPPC (K52del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2905777	NM_024409.4(NPPC):c.199G>A (p.Asp67Asn)	NPPC (D67N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901607	NM_024409.4(NPPC):c.247G>A (p.Ala83Thr)	NPPC (A83T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899208	NM_024409.4(NPPC):c.182G>A (p.Gly61Asp)	NPPC (G61D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848883	NM_024409.4(NPPC):c.139G>A (p.Gly47Ser)	NPPC (G47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848234	NM_024409.4(NPPC):c.240G>A (p.Lys80=)	NPPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831901	NM_024409.4(NPPC):c.325G>T (p.Gly109Cys)	LOC129935852, NPPC (G109C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771642	NM_024409.4(NPPC):c.130C>T (p.Gln44Ter)	NPPC (Q44*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2722557	NM_024409.4(NPPC):c.131A>G (p.Gln44Arg)	NPPC (Q44R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2722072	NM_024409.4(NPPC):c.313G>A (p.Gly105Ser)	LOC129935852, NPPC (G105S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709381	NM_024409.4(NPPC):c.342G>C (p.Lys114Asn)	LOC129935852, NPPC (K114N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689599	NM_024409.4(NPPC):c.294C>A (p.Tyr98Ter)	NPPC (Y98*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 2545629	NM_024409.4(NPPC):c.153G>T (p.Lys51Asn)	NPPC (K51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522759	NM_024409.4(NPPC):c.56G>C (p.Arg19Pro)	NPPC (R19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486427	NM_024409.4(NPPC):c.229G>A (p.Val77Met)	NPPC (V77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410562	NM_024409.4(NPPC):c.182G>T (p.Gly61Val)	NPPC (G61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284878	NM_024409.4(NPPC):c.257C>A (p.Ala86Asp)	NPPC (A86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236805	NM_024409.4(NPPC):c.194A>C (p.Lys65Thr)	NPPC (K65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2126388	NM_024409.4(NPPC):c.54C>G (p.Leu18=)	NPPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118056	NM_024409.4(NPPC):c.365G>A (p.Ser122Asn)	NPPC (S122N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065063	NM_024409.4(NPPC):c.145G>T (p.Gly49Cys)	NPPC (G49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2047644	NM_024409.4(NPPC):c.295A>G (p.Lys99Glu)	NPPC (K99E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2025072	NM_024409.4(NPPC):c.149A>T (p.Gln50Leu)	NPPC (Q50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976991	NM_024409.4(NPPC):c.84G>A (p.Pro28=)	NPPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970375	NM_024409.4(NPPC):c.203G>A (p.Arg68Gln)	NPPC (R68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947199	NM_024409.4(NPPC):c.107C>G (p.Pro36Arg)	NPPC (P36R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945485	NM_024409.4(NPPC):c.37C>G (p.Leu13Val)	NPPC (L13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925662	NM_024409.4(NPPC):c.302C>A (p.Ala101Asp)	LOC129935852, NPPC (A101D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1611409	NM_024409.4(NPPC):c.327C>T (p.Gly109=)	LOC129935852, NPPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600145	NM_024409.4(NPPC):c.354C>A (p.Ile118=)	NPPC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1588009	NM_024409.4(NPPC):c.96G>T (p.Pro32=)	NPPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1561829	NM_024409.4(NPPC):c.147T>C (p.Gly49=)	NPPC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1552895	NM_024409.4(NPPC):c.76G>C (p.Gly26Arg)	NPPC (G26R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1547438	NM_024409.4(NPPC):c.90+20C>T	NPPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529410	NM_024409.4(NPPC):c.348C>T (p.Asp116=)	NPPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528190	NM_024409.4(NPPC):c.159C>A (p.Gly53=)	NPPC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1477391	NM_024409.4(NPPC):c.59C>T (p.Pro20Leu)	NPPC (P20L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462387	NM_024409.4(NPPC):c.3G>A (p.Met1Ile)	NPPC (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446497	NM_024409.4(NPPC):c.226C>A (p.Arg76Ser)	NPPC (R76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438424	NM_024409.4(NPPC):c.362T>C (p.Met121Thr)	NPPC (M121T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437977	NM_024409.4(NPPC):c.211C>A (p.Leu71Met)	NPPC (L71M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1427285	NM_024409.4(NPPC):c.364A>T (p.Ser122Cys)	NPPC (S122C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424834	NM_024409.4(NPPC):c.90+5G>A	NPPC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1422399	NM_024409.4(NPPC):c.92T>A (p.Val31Asp)	NPPC (V31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398672	NM_024409.4(NPPC):c.245G>A (p.Arg82Gln)	NPPC (R82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391426	NM_024409.4(NPPC):c.46C>A (p.Leu16Ile)	NPPC (L16I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SP140L, SPATA3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 1345192	NM_024409.4(NPPC):c.313G>C (p.Gly105Arg)	LOC129935852, NPPC (G105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 771343	NM_024409.4(NPPC):c.52C>T (p.Leu18Phe)	NPPC (L18F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 638105	GRCh37/hg19 2q37.1(chr2:232550626-232968158)x3	COPS7B, DIS3L2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635923	Single allele	COPS7B, DIS3L2 +1 more	Deletion	Skeletal dysplasia	GUncertain significance
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 144230	GRCh38/hg38 2q37.1(chr2:231892041-232652305)x1	ALPG, ALPI +38 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	AGFG1, ALPG +347 more	Copy number loss	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	LOC126806566, LOC126806567 +393 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 89