9480[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 3219817	NM_005865.4(PRSS16):c.7G>A (p.Val3Ile)	PRSS16 (V3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219812	NM_005865.4(PRSS16):c.17C>T (p.Ala6Val)	PRSS16 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219816	NM_005865.4(PRSS16):c.71C>T (p.Ala24Val)	PRSS16 (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382375	NM_005865.4(PRSS16):c.86G>A (p.Arg29His)	PRSS16 (R29H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293264	NM_005865.4(PRSS16):c.269G>C (p.Gly90Ala)	PRSS16 (G90A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310669	NM_005865.4(PRSS16):c.292C>T (p.His98Tyr)	PRSS16 (H98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219813	NM_005865.4(PRSS16):c.397T>A (p.Phe133Ile)	PRSS16 (F133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347170	NM_005865.4(PRSS16):c.413T>C (p.Ile138Thr)	PRSS16 (I138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228866	NM_005865.4(PRSS16):c.428T>C (p.Leu143Pro)	PRSS16 (L143P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320544	NM_005865.4(PRSS16):c.473C>T (p.Ala158Val)	PRSS16 (A158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327866	NM_005865.4(PRSS16):c.550G>A (p.Gly184Ser)	LOC129996095, PRSS16 (G184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219814	NM_005865.4(PRSS16):c.595C>A (p.Pro199Thr)	PRSS16 (P199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518342	NM_005865.4(PRSS16):c.638G>A (p.Arg213Gln)	PRSS16 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455591	NM_005865.4(PRSS16):c.690G>A (p.Met230Ile)	LOC129996097, PRSS16 (M230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299994	NM_005865.4(PRSS16):c.704G>A (p.Gly235Asp)	LOC129996097, PRSS16 (G235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219815	NM_005865.4(PRSS16):c.707G>T (p.Gly236Val)	PRSS16, LOC129996097 (G236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275020	NM_005865.4(PRSS16):c.718T>A (p.Cys240Ser)	PRSS16 (C240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535581	NM_005865.4(PRSS16):c.721C>G (p.Arg241Gly)	PRSS16 (R241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309214	NM_005865.4(PRSS16):c.728C>T (p.Ala243Val)	PRSS16 (A243V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349371	NM_005865.4(PRSS16):c.787G>T (p.Ala263Ser)	PRSS16 (A263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289990	NM_005865.4(PRSS16):c.800C>T (p.Thr267Met)	PRSS16 (T267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283080	NM_005865.4(PRSS16):c.914C>T (p.Pro305Leu)	PRSS16 (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495671	NM_005865.4(PRSS16):c.1027G>A (p.Gly343Ser)	PRSS16 (G343S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219811	NM_005865.4(PRSS16):c.1059G>T (p.Glu353Asp)	PRSS16 (E353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280712	NM_005865.4(PRSS16):c.1112G>A (p.Arg371Gln)	PRSS16 (R371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284012	NM_005865.4(PRSS16):c.1216C>A (p.Leu406Ile)	PRSS16 (L406I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510830	NM_005865.4(PRSS16):c.1267G>T (p.Ala423Ser)	PRSS16 (A423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334467	NM_005865.4(PRSS16):c.1339G>T (p.Asp447Tyr)	PRSS16 (D447Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485412	NM_005865.4(PRSS16):c.1369G>C (p.Ala457Pro)	PRSS16 (A457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455552	NM_005865.4(PRSS16):c.1369G>T (p.Ala457Ser)	PRSS16 (A457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770923	NM_005865.4(PRSS16):c.1520_1534del (p.Glu507_Lys511del)	PRSS16	Deletion (inframe_deletion)	not provided	GBenign
Select item 686587	GRCh37/hg19 6p22.1(chr6:27209501-27432468)x1	POM121L2, PRSS16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563170	GRCh37/hg19 6p22.1(chr6:27166564-27432468)x3	ZNF184, ZNF391 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563169	GRCh37/hg19 6p22.2-22.1(chr6:26928203-27344831)x3	H2BC11, H2AC11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 39