ClinVar for Gene (Select 147746) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284341	NM_144685.5(HIPK4):c.574T>G (p.Phe192Val)	HIPK4 (F192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284340	NM_144685.5(HIPK4):c.43G>A (p.Glu15Lys)	HIPK4 (E15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284339	NM_144685.5(HIPK4):c.725C>A (p.Ala242Asp)	HIPK4 (A242D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284338	NM_144685.5(HIPK4):c.1631A>G (p.Asp544Gly)	HIPK4 (D544G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105968	NM_144685.5(HIPK4):c.92G>A (p.Arg31Gln)	HIPK4 (R31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105967	NM_144685.5(HIPK4):c.870G>T (p.Gln290His)	HIPK4 (Q290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105966	NM_144685.5(HIPK4):c.827G>A (p.Arg276His)	HIPK4 (R276H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105965	NM_144685.5(HIPK4):c.490A>G (p.Ile164Val)	HIPK4 (I164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105964	NM_144685.5(HIPK4):c.286C>T (p.Leu96Phe)	HIPK4 (L96F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105963	NM_144685.5(HIPK4):c.25G>A (p.Asp9Asn)	HIPK4 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105962	NM_144685.5(HIPK4):c.17C>T (p.Ser6Leu)	HIPK4 (S6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105961	NM_144685.5(HIPK4):c.1244G>A (p.Arg415Gln)	HIPK4 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105960	NM_144685.5(HIPK4):c.1047G>A (p.Met349Ile)	HIPK4 (M349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2614520	NM_144685.5(HIPK4):c.1657A>G (p.Met553Val)	HIPK4 (M553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609748	NM_144685.5(HIPK4):c.1607T>G (p.Leu536Arg)	HIPK4 (L536R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599655	NM_144685.5(HIPK4):c.1343A>G (p.Asn448Ser)	HIPK4 (N448S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591333	NM_144685.5(HIPK4):c.818C>T (p.Thr273Met)	HIPK4 (T273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517252	NM_144685.5(HIPK4):c.123C>G (p.Ile41Met)	HIPK4 (I41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514461	NM_144685.5(HIPK4):c.1069G>A (p.Glu357Lys)	HIPK4 (E357K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480909	NM_144685.5(HIPK4):c.149G>T (p.Arg50Leu)	HIPK4 (R50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425787	NC_000019.9:g.(?_40882496)_(41135455_?)dup	BLVRB, HIPK4 +7 more	Duplication	not provided	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2390034	NM_144685.5(HIPK4):c.1534C>A (p.Pro512Thr)	HIPK4 (P512T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386263	NM_144685.5(HIPK4):c.1042T>A (p.Ser348Thr)	HIPK4 (S348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379613	NM_144685.5(HIPK4):c.1225G>A (p.Gly409Ser)	HIPK4 (G409S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365756	NM_144685.5(HIPK4):c.899C>A (p.Ala300Asp)	HIPK4 (A300D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362173	NM_144685.5(HIPK4):c.922C>T (p.Arg308Trp)	HIPK4 (R308W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343699	NM_144685.5(HIPK4):c.1288G>C (p.Asp430His)	HIPK4 (D430H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338284	NM_144685.5(HIPK4):c.152T>A (p.Ile51Asn)	HIPK4 (I51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337224	NM_144685.5(HIPK4):c.1747G>A (p.Val583Ile)	HIPK4 (V583I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309541	NM_144685.5(HIPK4):c.1100G>A (p.Arg367His)	HIPK4 (R367H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289185	NM_144685.5(HIPK4):c.814G>A (p.Glu272Lys)	HIPK4 (E272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263055	NM_144685.5(HIPK4):c.1195A>G (p.Lys399Glu)	HIPK4 (K399E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246491	NM_144685.5(HIPK4):c.193C>G (p.Leu65Val)	HIPK4 (L65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239379	NM_144685.5(HIPK4):c.376C>T (p.Arg126Trp)	HIPK4 (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225426	NM_144685.5(HIPK4):c.1442G>A (p.Arg481His)	HIPK4 (R481H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222822	NM_144685.5(HIPK4):c.674G>A (p.Arg225His)	HIPK4 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217074	NM_144685.5(HIPK4):c.1588G>A (p.Gly530Arg)	HIPK4 (G530R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210960	NM_144685.5(HIPK4):c.103G>A (p.Glu35Lys)	HIPK4 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 784394	NM_144685.5(HIPK4):c.1261G>A (p.Gly421Ser)	HIPK4 (G421S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782331	NM_144685.5(HIPK4):c.1032C>T (p.His344=)	HIPK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778597	NM_144685.5(HIPK4):c.1218T>G (p.Ser406Arg)	HIPK4 (S406R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710146	NM_144685.5(HIPK4):c.911C>T (p.Thr304Ile)	HIPK4 (T304I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 161807	NM_144685.5(HIPK4):c.1279G>A (p.Asp427Asn)	HIPK4 (D427N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 53